| fenylketonurie (aandoening) | | fenylketonurie | | phenylketonuria
PKU
PAH-deficiëntie
deficiëntie van fenylalaninehydroxylase
| | Phenylketonuria | | Oligophrenia phenylpyruvica
PKU - phenylketonuria
Folling disease
Phenylalanine hydroxylase deficiency
PAH (phenylalanine hydroxylase) deficiency
| | A rare inborn error of amino acid metabolism with characteristics of elevated blood phenylalanine and low levels or absence of phenylalanine hydroxylase enzyme. If not detected early or left untreated, the disorder manifests with mild to severe mental disability. The most common form of the condition is known as classical phenylketonuria and has severe symptoms. A mild form has also been described (mild PKU), and an even milder form known as mild hyperphenylalaninemia (mild HPA or non-PKU HPA). A subset of patients with milder phenotypes has been found to be responsive to tetrahydrobiopterin (BH4), the cofactor of phenylalanine hydroxylase (BH4-responsive HPA). The disease is caused by a wide range of variants in the PAH gene (12q22-q24.2) coding for phenylalanine hydroxylase. Transmission is autosomal recessive. |
| | Id | 190687004 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 716 |
| SNOMED CT to ICD-10 extended map | | Target | E70.1 | | Rule | TRUE | | Advice | ALWAYS E70.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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