| Entry |
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| Name |
Phenylketonuria;
Hyperphenylalaninemia, BH4-deficient |
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| 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.
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| Category |
Inherited metabolic disease; Nervous system disease
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| 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
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| Pathway |
| hsa00400 | Phenylalanine, tyrosine and tryptophan biosynthesis |
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| Network |
nt06016 Phenylalanine and tyrosine metabolism |
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| Element |
| 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 |
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| Gene |
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]
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| Drug |
Pegvaliase [DR: D11077]
Sapropterin dihydrochloride [DR: D01798]
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| Other DBs |
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| Reference |
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| Authors |
Lindegren ML, Krishnaswami S, Reimschisel T, Fonnesbeck C, Sathe NA, McPheeters ML |
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| Title |
A Systematic Review of BH4 (Sapropterin) for the Adjuvant Treatment of Phenylketonuria. |
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| Journal |
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| LinkDB |
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