KEGG   DISEASE: PhenylketonuriaHelp
H00167                      Disease                                

Hyperphenylalaninemia, BH4-deficient
Phenylketonuria (PKU) is one of the most common inborn errors of metabolism marked by a deficiency of the hepatic enzyme phenylalanine hydroxylase (PAH), leading to a toxic accumulation of phenylalanine in the blood and multiple tissues and potentially to intellectual disability, delayed speech, seizures, and behavior abnormalities. Deficiency of tetrahydrobiopterin (BH4), the cofactor of PAH, is caused by defects of the enzymes in pterin biosynthesis. Because BH4 is also a cofactor of tyrosine hydroxylase and tryptophan hydroxylase in neurotransmitter synthesis, BH4-deficient hyperphenylalaninemia is characterized by neurotransmitter deficiencies.
Inherited metabolic disease; Nervous system disease
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of amino acid metabolism
   H00167  Phenylketonuria
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C50  Inborn errors of amino acid or other organic acid metabolism
     H00167  Phenylketonuria
BRITE hierarchy
hsa00400  Phenylalanine, tyrosine and tryptophan biosynthesis
hsa00790  Folate biosynthesis
nt06016  Phenylalanine and tyrosine metabolism
N00701  PAH deficiency in tyrosine biosynthesis
N00703  PTS deficiency in tetrahydrobiopterin biosynthesis
N00704  GCH1 deficiency in tetrahydrobiopterin biosynthesis
N00706  QDPR deficiency in tetrahydrobiopterin biosynthesis
N00707  PCBD1 deficiency in tetrahydrobiopterin biosynthesis
PAH; phenylalanine hydroxylase [HSA:5053] [KO:K00500]
(BH4-deficient, A) QDPR; quinoid dihydropteridine reductase [HSA:5860] [KO:K00357]
(BH4-deficient, B) GCH1; GTP cyclohydrolase 1 [HSA:2643] [KO:K01495]
(BH4-deficient, C) PTS; 6-pyruvoyltetrahydropterin synthase [HSA:5805] [KO:K01737]
(BH4-deficient, D) PCBD1; pterin-4 alpha-carbinolamine dehydratase [HSA:5092] [KO:K01724]
Pegvaliase [DR:D11077]
Sapropterin dihydrochloride [DR:D01798]
Other DBs
ICD-11: 5C50.0
ICD-10: E70.0
MeSH: D010661
OMIM: 261600 261630 233910 261640 264070
Lindegren ML, Krishnaswami S, Reimschisel T, Fonnesbeck C, Sathe NA, McPheeters ML
A Systematic Review of BH4 (Sapropterin) for the Adjuvant Treatment of Phenylketonuria.
JIMD Rep 8:109-19 (2013)
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