Tetrahydrobiopterin (BH4) deficiency is a congenital metabolic disorder that causes\u3000hyperphenylalaninaemia and progressive CNS disorders.<\/p>\n\n\n\n
More than 300 cases of PTPS deficiency have been reported worldwide, with 32 cases diagnosed in Japan.<\/p>\n\n\n\n
Mutations in the PTS gene result in a deficiency of BH4 due to a deficiency of 6-pyruvoyl tetrahydropterin synthase (PTPS).<\/p>\n\n\n\n
Hyperpheaemia is present from the neonatal period. It is often recognised by the onset of decreased muscle tone in the trunk and tubular rigidity of the limbs, as well as high-pitched whimpers and sometimes brief convulsions. It is generally detected and treated before the onset of the disease by neonatal mass screening, so there are no actual clinical signs.<\/p>\n\n\n\n
Generally detected by neonatal mass screening.<\/p>\n\n\n\n
Genetic testing.<\/p>\n\n\n\n
Neurotransmitter replacement therapy is used to control blood phenylalanine levels at the same time.<\/p>\n\n\n\n
Treatment should be continued throughout life, as failure to do so can lead to death in adulthood.<\/p>\n\n\n\n
References<\/p>\n\n\n\n
Intractable Disease Information Centre: https:\/\/www.nanbyou.or.jp\/wp-content\/uploads\/kenkyuhan_pdf2014\/gaiyo051.pdf<\/a><\/p>\n\n\nThe PTS gene can be tested with our N-advance FM+<\/a> and N-advance GM+<\/a> plans.\n\n\n\n