Phenylketonuria

Contact us
 
Return to database


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 (%)







Add new symptom/sign to this disease

Select symptom from list or write it in the box
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%)
Please provide your name and contact information as a reference
Name Institute Phone number Email address


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).
R S PAINE,



Pediatrics - Aug 1957