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hyperphenylalaninemia

Pathology: - different variants with increasing levels of blood phenylalanine associated with increasing severity - phenylketonuria is most severe form - depletion of the neurotransmitters dopamine & serotonin Genetics: - autosomal recessive - associated with defects in PAH - hyperphenylalaninemia with primapterinuria associated with defects in PCBD1 - associated with defects in PTS Clinical manifestations: - severe neurological symptoms unresponsive to the classic phenylalanine-low diet - hyperphenylalaninemia with primapterinuria may be asymptomatic [5] Laboratory: - elevated levels of blood phenylalanine (normal < 100 pM) - urine chemistry: excretion of 7-substituted pterins in urine of affected patients - PAH gene mutation

Related

phenylalanine phenylalanine in blood

Specific

phenylketonuria (PKU)

General

sign/symptom

Database Correlations

OMIM correlations

References

  1. OMIM :accession 261600
  2. OMIM :accession 264070
  3. OMIM :accession 261640
  4. Blau N et al, Primapterinuria: a new variant of atypical phenylketonuria. J Inherit Metab Dis. 1989;12 Suppl 2:335 PMID: 2512438
  5. Hyperphenylalaninemia with primapterinuria http://www.wrongdiagnosis.com/h/hyperphenylalaninemia_with_primapterinuria/intro.htm