{"id":111964,"date":"2025-06-12T14:07:58","date_gmt":"2025-06-12T05:07:58","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/"},"modified":"2025-10-16T14:42:32","modified_gmt":"2025-10-16T05:42:32","slug":"mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/?lang=en","title":{"rendered":"Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)"},"content":{"rendered":"\n<div style=\"height:20px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div style=\"border: 4px solid #e9e4f5; background-color: #fcfbff; border-radius: 12px; padding: 1.5rem; margin: 1.5rem 0 2.5rem; font-family: 'Helvetica Neue', sans-serif; line-height: 1.6; box-shadow: 0 2px 8px rgba(0, 0, 0, 0.03);\">\n  <div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/?lang=en\/#%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E3%81%BE%E3%81%A8%E3%82%81\" >\u3084\u3055\u3057\u3044\u307e\u3068\u3081<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/?lang=en\/#Introduction\" >Introduction<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/?lang=en\/#Genetic_Cause_and_Mechanism\" >Genetic Cause and Mechanism<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/?lang=en\/#The_ACADM_Gene\" >The ACADM Gene<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/?lang=en\/#Inheritance_Pattern\" >Inheritance Pattern<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/?lang=en\/#Alternate_Names_for_MCADD\" >Alternate Names for MCADD<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/?lang=en\/#Understanding_the_Disorder\" >Understanding the Disorder<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/?lang=en\/#Epidemiology\" >Epidemiology<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/?lang=en\/#Etiology_and_Pathophysiology\" >Etiology and Pathophysiology<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/?lang=en\/#Symptoms\" >Symptoms<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/?lang=en\/#Early_and_Acute_Presentation\" >Early and Acute Presentation<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/?lang=en\/#Long-Term_Effects\" >Long-Term Effects<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/?lang=en\/#Testing_and_Diagnosis\" >Testing and Diagnosis<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/?lang=en\/#Role_of_Newborn_Screening\" >Role of Newborn Screening<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/?lang=en\/#Confirmatory_Diagnostic_Methods\" >Confirmatory Diagnostic Methods<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/?lang=en\/#Treatment_and_Management\" >Treatment and Management<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/?lang=en\/#Managing_Acute_Episodes\" >Managing Acute Episodes<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/?lang=en\/#Preventive_Daily_Management\" >Preventive Daily Management<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/?lang=en\/#Monitoring_and_Emergency_Planning\" >Monitoring and Emergency Planning<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/?lang=en\/#Prognosis\" >Prognosis<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/?lang=en\/#References\" >References<\/a><\/li><\/ul><\/nav><\/div>\n<h2 style=\"margin-top: 0; margin-bottom: 0.75rem; font-size: 1.25rem; color: #7e6cae; text-align: left; border: none; border-bottom: none; padding-bottom: 0; display: block;\"><span class=\"ez-toc-section\" id=\"%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E3%81%BE%E3%81%A8%E3%82%81\"><\/span>\u3084\u3055\u3057\u3044\u307e\u3068\u3081<span class=\"ez-toc-section-end\"><\/span><\/h2>\n  <p style=\"margin: 0; font-size: 1rem; color: #444;\">\n<p>\n This article provides a clear, evidence-based overview of Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD), a genetic disorder that disrupts energy production from fats. It explains the role of the ACADM gene, how the condition presents in infants and children, how newborn screening enables early diagnosis, and the steps needed for effective management. The content is designed for families seeking reliable information and healthcare professionals looking for a scientifically accurate yet accessible reference.\n\n<\/p>\n  <\/p>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Introduction\"><\/span><strong>Introduction<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-text-align-center\"><strong>ACADM<\/strong><\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"25\" src=\"\/nipt\/wp-content\/uploads\/2025\/06\/hgtIdeo_genome_324717_a56de0-1024x25.png\" alt=\"ACADM\" class=\"wp-image-101087\"\/><\/figure><\/div>\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>Medium-Chain Acyl-CoA Dehydrogenase Deficiency, commonly referred to as MCADD, is a rare inherited metabolic disorder that interferes with the body\u2019s ability to break down certain fats and convert them into energy. This process becomes especially critical during fasting, illness, or periods of increased energy demand, such as fever or infection.<\/p>\n\n\n\n<p>Infants and young children are particularly vulnerable because their energy reserves are limited and their metabolic rate is high. During these times, their bodies depend heavily on fat metabolism to maintain stable blood glucose levels. When this pathway fails, the risk of dangerously low blood sugar, known as hypoglycemia, rises significantly. If left unmanaged, this can lead to seizures, coma, or even sudden death.<\/p>\n\n\n\n<p>This guide explains the genetic basis, symptoms, diagnostic process, and treatment options for MCADD in clear but scientifically accurate language, allowing both families and healthcare professionals to better understand the condition.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Genetic_Cause_and_Mechanism\"><\/span><strong>Genetic Cause and Mechanism<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"The_ACADM_Gene\"><\/span><strong>The ACADM Gene<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>MCADD is caused by mutations in the <strong>ACADM<\/strong> gene, which is located at position p31.1 on chromosome 1. The ACADM gene encodes the Medium-Chain Acyl-CoA Dehydrogenase (MCAD) enzyme. This enzyme plays an essential role in the first step of mitochondrial beta-oxidation, the process by which fatty acids are broken down to release energy.<\/p>\n\n\n\n<p>When functioning correctly, the enzyme targets medium-chain fatty acids, typically those with 6 to 12 carbon atoms, and begins breaking them down into smaller components such as acetyl-CoA. These products are then used to generate ketone bodies or directly enter energy pathways to keep cells functioning. A deficiency of the enzyme disrupts this process. As a result, energy production is impaired, and intermediate by-products accumulate in the bloodstream and tissues. This buildup is toxic and, combined with the lack of sufficient energy, underpins many of the acute symptoms seen in MCADD.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Inheritance_Pattern\"><\/span><strong>Inheritance Pattern<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>The condition follows an <strong>autosomal recessive<\/strong> pattern of inheritance. This means a child must inherit one copy of the faulty gene from each parent to develop MCADD. Parents who each carry one defective copy are typically asymptomatic but have a one-in-four chance with each pregnancy of passing the disorder to their child. This genetic mechanism explains why MCADD may appear unexpectedly in families with no prior history of metabolic disorders.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Alternate_Names_for_MCADD\"><\/span><strong>Alternate Names for MCADD<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>MCADD may be referred to in medical records or literature by other terms, such as MCAD deficiency, ACADM deficiency, Medium-Chain Fatty Acid Oxidation Disorder, or, in cases where it leads to secondary issues with carnitine metabolism, Secondary Carnitine Deficiency. All these terms refer to the same underlying disruption of medium-chain fatty acid oxidation and are grouped under mitochondrial fatty acid oxidation disorders.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Understanding_the_Disorder\"><\/span><strong>Understanding the Disorder<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>In a healthy metabolism, when carbohydrate stores run low during fasting or illness, the body mobilizes fat stores to produce ketone bodies and acetyl-CoA. These molecules provide an alternative and steady energy supply for organs, particularly the brain and muscles. In MCADD, because the MCAD enzyme is absent or insufficient, this process fails. The body cannot produce enough ketones, leading to what is known as hypoketotic hypoglycemia. At the same time, harmful intermediate metabolites build up in the blood and tissues.<\/p>\n\n\n\n<p>With early diagnosis and careful management, however, individuals with MCADD can live full and healthy lives. Consistent attention to preventive measures, such as avoiding prolonged fasting and having an emergency plan during illness, is the key to preventing metabolic crises.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Epidemiology\"><\/span><strong>Epidemiology<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Although MCADD is considered rare, it is one of the more common disorders in the category of fatty acid oxidation defects. Its prevalence varies geographically. Globally, approximately one in 18,000 individuals is affected. In the United States, the frequency ranges between one in 13,000 and one in 24,000, with some regional variation depending on population genetics and the reach of newborn screening programs. Northern European countries, including Denmark and the Netherlands, report higher incidence rates, while in Asian populations, including Japan, the condition is far less common, with estimates ranging from one in 50,000 to one in 100,000 individuals.<\/p>\n\n\n\n<p>The expansion of newborn screening programs worldwide has greatly increased early detection, often identifying infants with MCADD before any symptoms develop. This early detection has significantly improved clinical outcomes and survival rates.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Etiology_and_Pathophysiology\"><\/span><strong>Etiology and Pathophysiology<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>The primary cause of MCADD is a mutation in the ACADM gene that reduces or eliminates the activity of the MCAD enzyme. Without this enzyme, the body cannot complete the breakdown of medium-chain fatty acids during fasting or metabolic stress.<\/p>\n\n\n\n<p>When the pathway fails, medium-chain fatty acids accumulate in the form of medium-chain acylcarnitines and dicarboxylic acids. These compounds contribute to liver dysfunction and metabolic imbalances, particularly low blood glucose levels. This explains why metabolic crises typically occur during illness, prolonged fasting, or situations where the body is relying heavily on fat for energy.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Symptoms\"><\/span><strong>Symptoms<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Early_and_Acute_Presentation\"><\/span><strong>Early and Acute Presentation<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Newborns with MCADD typically appear healthy for the first few days or weeks of life. Symptoms often emerge during the first significant period of fasting, infection, or other metabolic stress. The most common and dangerous early sign is hypoketotic hypoglycemia, where blood sugar drops to dangerously low levels without a corresponding increase in ketone bodies. Other symptoms often include vomiting, lethargy, and, in more severe situations, seizures or coma. Liver dysfunction, sometimes visible as an enlarged liver, and elevated levels of ammonia in the blood are frequently observed.<\/p>\n\n\n\n<p>In some cases, the first presentation may be sudden and severe, leading to unexpected infant death. Research indicates that undiagnosed MCADD may account for a proportion of sudden infant death syndrome (SIDS) cases.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Long-Term_Effects\"><\/span><strong>Long-Term Effects<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Children who experience repeated metabolic crises or prolonged hypoglycemia without timely treatment may develop longer-term complications. These can include developmental delays, difficulties with attention and focus that resemble Attention Deficit Hyperactivity Disorder (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>), persistent fatigue during physical exertion, and, less commonly, muscle weakness.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Testing_and_Diagnosis\"><\/span><strong>Testing and Diagnosis<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Role_of_Newborn_Screening\"><\/span><strong>Role of Newborn Screening<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Many countries have integrated MCADD into their newborn screening panels. This involves testing a small blood sample within days after birth. Elevated levels of a specific compound called <strong>C8 acylcarnitine<\/strong> strongly suggest MCADD. Other markers, including altered levels of C6 and C10 acylcarnitines and elevated C8-to-C2 ratios, can provide additional diagnostic clues.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Confirmatory_Diagnostic_Methods\"><\/span><strong>Confirmatory Diagnostic Methods<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>To confirm the diagnosis, blood tests measuring a spectrum of acylcarnitines are performed, alongside urine tests that detect organic acids such as hexanoylglutamine. Carnitine levels are also assessed, as they are frequently reduced in individuals with MCADD. Genetic testing provides definitive confirmation by identifying mutations in the ACADM gene, with the most common being the c.985A&gt;G (p.Lys329Glu) mutation. In certain cases, functional enzyme activity assays in white blood cells or cultured skin cells are used. Enzyme activity below 25% of normal values confirms the diagnosis.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Treatment_and_Management\"><\/span><strong>Treatment and Management<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Managing_Acute_Episodes\"><\/span><strong>Managing Acute Episodes<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>During an acute metabolic crisis, immediate hospital care is critical. Intravenous glucose is administered at a rate of approximately 10 to 12 milligrams per kilogram per minute to quickly restore and maintain normal blood sugar levels. Concurrently, any underlying triggers, such as infections or other metabolic stressors, are treated. Continuous monitoring and correction of electrolyte imbalances, acid-base disturbances, and elevated ammonia levels are also essential components of care.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Preventive_Daily_Management\"><\/span><strong>Preventive Daily Management<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Avoiding prolonged fasting is the cornerstone of MCADD management. For infants, this means feeding every two to three hours, including overnight. Older children should not fast for more than twelve hours, and in some cases, a bedtime snack or uncooked cornstarch supplement is recommended to provide a slow release of glucose overnight. Maintaining adequate overall caloric intake and ensuring that no more than 30% of daily calories come from fat helps to stabilize metabolism and reduce risk.<\/p>\n\n\n\n<p>Some individuals may also require supplementation with L-carnitine, typically in the range of 50 to 100 milligrams per kilogram per day, to help eliminate toxic metabolic by-products and support energy metabolism.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Monitoring_and_Emergency_Planning\"><\/span><strong>Monitoring and Emergency Planning<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Regular follow-up with a pediatric metabolic specialist is essential. In early childhood, visits are typically scheduled every two to three months, shifting to every six months once the child is stable. These visits often include growth assessments, developmental evaluations, and biochemical monitoring, including carnitine levels.<\/p>\n\n\n\n<p>An emergency care plan is also critical. Families are advised to carry an emergency card or written action plan that can be presented to healthcare providers during illnesses or metabolic stress. Rapid access to medical care during fever, vomiting, or reduced food intake is essential to prevent complications.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Prognosis\"><\/span><strong>Prognosis<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>When MCADD is identified through newborn screening and managed appropriately, the long-term prognosis is excellent. Children and adults with well-controlled MCADD can lead normal, active lives. However, failure to diagnose or manage the condition can lead to severe outcomes. Historically, before widespread screening, 20% to 25% of affected children died during their first metabolic crisis, and survivors often experienced lasting neurological damage.<\/p>\n\n\n\n<p>Today, with proactive care, these outcomes are largely preventable. Nevertheless, lifelong vigilance is required, particularly during times of stress or illness, to maintain metabolic stability and prevent potentially life-threatening complications.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"References\"><\/span>References<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1424\/\">Chang IJ, Lam C, Vockley J. Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. 2000 Apr 20 [Updated 2024 Sep 26]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1424\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.ymgme.2019.11.006\">Anderson, Daniela R., et al. \u2018Clinical and Biochemical Outcomes of Patients with Medium-Chain Acyl-CoA Dehydrogenase Deficiency\u2019. <em>Molecular Genetics and Metabolism<\/em>, vol. 129, no. 1, Jan. 2020, pp. 13\u201319. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.1016\/j.ymgme.2019.11.006.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/edm2.385\">Mason, Emily, et al. \u2018Medium\u2010chain Acyl\u2010COA Dehydrogenase Deficiency: Pathogenesis, Diagnosis, and Treatment\u2019. <em>Endocrinology, Diabetes &amp; Metabolism<\/em>, vol. 6, no. 1, Jan. 2023, p. e385. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.1002\/edm2.385.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.arcped.2011.10.025\">Feillet, F., et al. \u2018D\u00e9ficit en acyl-CoA-d\u00e9shydrog\u00e9nase des acides gras \u00e0 cha\u00eene moyenne (MCAD)\u202f: consensus fran\u00e7ais pour le d\u00e9pistage, le diagnostic, et la prise en charge\u2019. <em>Archives de P\u00e9diatrie<\/em>, vol. 19, no. 2, Feb. 2012, pp. 184\u201393. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.1016\/j.arcped.2011.10.025.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/39460617\/\">Perez G, Barber GP, Benet-Pages A, Casper J, Clawson H, Diekhans M, Fischer C, Gonzalez JN, Hinrichs AS, Lee CM, Nassar LR, Raney BJ, Speir ML, van Baren MJ, Vaske CJ, Haussler D, Kent WJ, Haeussler M. The UCSC Genome Browser database: 2025 update. Nucleic Acids Res. 2025 Jan 6;53(D1):D1243-D1249. doi: 10.1093\/nar\/gkae974. PMID: 39460617; PMCID: PMC11701590.<\/a><\/li>\n<\/ul>\n\n\n\n<!-- am trying to embed a JSONLD block-->\n<!-- it should work-->\n\n<script type=\"application\/ld+json\">\n{\n  \"@context\": \"https:\/\/schema.org\",\n  \"@graph\": [\n    {\n      \"@type\": \"WebPage\",\n      \"@id\": \"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/\",\n      \"url\": \"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/\",\n      \"name\": \"\u4e2d\u9396\u30a2\u30b7\u30ebCoA\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u6b20\u640d\u75c7\uff08MCADD\uff09\u306e\u75c7\u72b6\u30fb\u539f\u56e0\u30fb\u691c\u67fb\u30fb\u6cbb\u7642\u3092\u89e3\u8aac\uff5c\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\",\n      \"description\": 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\"@type\": \"Person\",\n        \"name\": \"HUMEDIT Contents Team\"\n      },\n      \"publisher\": {\n        \"@type\": \"Organization\",\n        \"name\": \"\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\",\n        \"url\": \"https:\/\/www.hiro-clinic.or.jp\"\n      },\n      \"inLanguage\": \"ja\",\n      \"mainEntityOfPage\": {\n        \"@type\": \"WebPage\",\n        \"@id\": \"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/\"\n      }\n    },\n    {\n      \"@type\": \"MedicalCondition\",\n      \"name\": \"\u4e2d\u9396\u30a2\u30b7\u30ebCoA\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u6b20\u640d\u75c7\",\n      \"alternateName\": \"Medium-Chain Acyl-CoA Dehydrogenase Deficiency, MCADD\",\n      \"url\": \"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/\",\n      \"description\": \"MCADD\u306f\u3001\u4e2d\u9396\u8102\u80aa\u9178\u3092\u4ee3\u8b1d\u3057\u3066\u30a8\u30cd\u30eb\u30ae\u30fc\u306b\u5909\u3048\u308b\u305f\u3081\u306b\u5fc5\u8981\u306a\u9175\u7d20\uff08MCAD\uff09\u304c\u4e0d\u8db3\u307e\u305f\u306f\u6b20\u640d\u3059\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u907a\u4f1d\u6027\u306e\u5148\u5929\u6027\u4ee3\u8b1d\u7570\u5e38\u75c7\u3067\u3059\u3002\u4e3b\u306b\u7a7a\u8179\u6642\u3084\u611f\u67d3\u6642\u306b\u75c7\u72b6\u304c\u73fe\u308c\u3001\u91cd\u7be4\u306a\u5834\u5408\u306f\u660f\u7761\u3084\u7a81\u7136\u6b7b\u306b\u81f3\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\",\n      \"cause\": \"ACADM\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u306b\u3088\u308a\u3001\u4e2d\u9396\u8102\u80aa\u9178\u306e\u03b2\u9178\u5316\u306b\u95a2\u308f\u308b\u9175\u7d20\uff08MCAD\uff09\u306e\u6a5f\u80fd\u304c\u4f4e\u4e0b\u307e\u305f\u306f\u6d88\u5931\u3059\u308b\u3002\",\n      \"symptom\": [\n        \"\u7a7a\u8179\u6642\u306e\u4f4e\u8840\u7cd6\",\n        \"\u5614\u5410\",\n        \"\u55dc\u7720\uff08\u5143\u6c17\u304c\u306a\u3044\uff09\",\n        \"\u3051\u3044\u308c\u3093\",\n        \"\u809d\u816b\u5927\",\n        \"\u610f\u8b58\u969c\u5bb3\",\n        \"\u7a81\u7136\u6b7b\uff08SIDS\uff09\"\n      ],\n      \"possibleTreatment\": [\n        \"\u7a7a\u8179\u3092\u907f\u3051\u308b\u983b\u56de\u306e\u98df\u4e8b\",\n        \"\u5c31\u5bdd\u524d\u306e\u8efd\u98df\u307e\u305f\u306f\u30b3\u30fc\u30f3\u30b9\u30bf\u30fc\u30c1\u6442\u53d6\",\n        \"\u611f\u67d3\u6642\u306b\u306f\u8fc5\u901f\u306a\u30d6\u30c9\u30a6\u7cd6\u6295\u4e0e\uff08\u70b9\u6ef4\uff09\",\n        \"L-\u30ab\u30eb\u30cb\u30c1\u30f3\u306e\u88dc\u5145\uff08\u5fc5\u8981\u306b\u5fdc\u3058\u3066\uff09\",\n        \"\u9ad8\u8102\u80aa\u98df\u3084MCT\u30aa\u30a4\u30eb\u306e\u56de\u907f\"\n      ],\n      \"medicalSpecialty\": {\n        \"@type\": \"MedicalSpecialty\",\n        \"name\": \"\u5c0f\u5150\u79d1\u3001\u4ee3\u8b1d\u5185\u79d1\"\n      }\n    }\n  ]\n}\n<\/script>\n","protected":false},"excerpt":{"rendered":"\u3084\u3055\u3057\u3044\u307e\u3068\u3081 This article&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/?lang=en\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":79,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[97],"tags":[],"class_list":["post-111964","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/111964","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/79"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=111964"}],"version-history":[{"count":3,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/111964\/revisions"}],"predecessor-version":[{"id":118407,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/111964\/revisions\/118407"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=111964"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=111964"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=111964"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}