Condition: Hyperphenylalaninemia with primapterinuria


rs104894172 in PCBD1 gene and Hyperphenylalaninemia with primapterinuria PMID 25333069 2014 Disease variants in genomes of 44 centenarians.

PMID 8352282 1993 Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism.

PMID 8618906 1995 Characterization of the wild-type form of 4a-carbinolamine dehydratase and two naturally occurring mutants associated with hyperphenylalaninemia.

PMID 9585615 1998 Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH).

PMID 24204001 2014 Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.

PMID 9760199 1998 Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia.

PMID 27246466 2017 Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients.