hyperphenylalaninemia
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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
More general terms
More specific terms
Additional terms
References
- ↑ OMIM https://mirror.omim.org/entry/261600
- ↑ OMIM https://mirror.omim.org/entry/264070
- ↑ OMIM https://mirror.omim.org/entry/261640
- ↑ Blau N et al, Primapterinuria: a new variant of atypical phenylketonuria. J Inherit Metab Dis. 1989;12 Suppl 2:335 PMID: https://www.ncbi.nlm.nih.gov/pubmed/2512438
- ↑ 5.0 5.1 Hyperphenylalaninemia with primapterinuria http://www.wrongdiagnosis.com/h/hyperphenylalaninemia_with_primapterinuria/intro.htm