KEGG   DISEASE: Phenylketonuria
Entry
H00167                      Disease                                
Name
Phenylketonuria;
Hyperphenylalaninemia, BH4-deficient
Description
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.
Category
Congenital disorder of metabolism
Brite
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
Related
pathway
hsa00790  Folate biosynthesis
hsa01240  Biosynthesis of cofactors
hsa00400  Phenylalanine, tyrosine and tryptophan biosynthesis
Network
nt06016  Phenylalanine and tyrosine metabolism
Gene
PAH [HSA:5053] [KO:K00500]
(BH4-deficient, A) QDPR [HSA:5860] [KO:K00357]
(BH4-deficient, B) GCH1 [HSA:2643] [KO:K01495]
(BH4-deficient, C) PTS [HSA:5805] [KO:K01737]
(BH4-deficient, D) PCBD1 [HSA:5092] [KO:K01724]
Drug
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
Reference
  Authors
Lindegren ML, Krishnaswami S, Reimschisel T, Fonnesbeck C, Sathe NA, McPheeters ML
  Title
A Systematic Review of BH4 (Sapropterin) for the Adjuvant Treatment of Phenylketonuria.
  Journal
JIMD Rep 8:109-19 (2013)
DOI:10.1007/8904_2012_168

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