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phenylketonuria 2 (dihydropteridine reductase deficiency)
Epidemiology: rare
Pathology:
- hyperphenylalaninemia
- signs are attributable to depletion of the neurotransmitters dopamine & serotonin, whose syntheses are controlled by tryptophan hydroxylase & tyrosine hydroxylase that use BH-4 as cofactor
Genetics:
- autosomal recessive
- associated with defects in QDPR
Clinical manifestations:
- severe neurologic symptoms (malignant hyperphenylalaninemia) including
- axial hypotonia
- truncal hypertonia
- abnormal thermogenesis
- microcephaly
Laboratory:
- dihydropteridine reductase in erythrocytes
Management:
- not responsive to phenylalanine-restricted diet
- intravenous tetrahydrobiopterin (BH-4), oral therapy not effective
- lethal if untreated
General
phenylketonuria (PKU)
Database Correlations
OMIM 261630
References
OMIM :accession 261630