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Description from OMIM

Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism resulting from a deficiency of phenylalanine hydroxylase (PAH; 612349), an enzyme that catalyzes the hydroxylation of phenylalanine to tyrosine, the rate-limiting step in phenylalanine catabolism. If undiagnosed and untreated, phenylketonuria can result in impaired postnatal cognitive development resulting from a neurotoxic effect of hyperphenylalaninemia (Zurfluh et al., 2008). See Scriver (2007) and Blau et al. (2010) for detailed reviews of PKU.

Prevalence of clinical parameters (%)

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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms

Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Mental retardation nervous 98 % 13452670 2011-10-22
Microcephaly nervous 68 % 13452670 2011-10-22
Short stature skeletal 65 % 13452670 2011-10-22
Hyperactive reflexes nervous 57 % 13452670 2011-10-22
Tremor nervous 30 % 13452670 2011-10-22
Seizures nervous 26 % 13452670 2011-10-22
Rash integumentary 19 % 13452670 2011-10-22

List of references:

The variability in manifestations of untreated patients with phenylketonuria (phenylpyruvic aciduria).

Pediatrics - Aug 1957