#tetrahydrobiopterin_deficiency
Tetrahydrobiopterin deficiency
Medical condition
Tetrahydrobiopterin deficiency (THBD, BH4D) is a rare metabolic disorder that increases the blood levels of phenylalanine. Phenylalanine is an amino acid obtained normally through the diet, but can be harmful if excess levels build up, causing intellectual disability and other serious health problems. In healthy individuals, it is metabolised (hydroxylated) into tyrosine, another amino acid, by phenylalanine hydroxylase. However, this enzyme requires tetrahydrobiopterin as a cofactor and thus its deficiency slows phenylalanine metabolism.
Thu 25th
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Tetrahydrobiopterin deficiency Tetrahydrobiopterin Phenylketonuria Dihydropteridine reductase deficiency 6-Pyruvoyltetrahydropterin synthase deficiency Sepiapterin Autosomal dominant GTP cyclohydrolase I deficiency Autosomal recessive GTP cyclohydrolase I deficiency Pterin-4 alpha-carbinolamine dehydratase deficiency List of genetic disorders
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