Disorders

BH4-Deficient Hyperphenylalaninemia D

Synonym(s): CADH Deficiency, HPABH4D, Hyperphenylalaninemia with Primapterinuria, PCBD Deficiency, Tetrahydrobiopterin-Deficient Hyperphenylalaninemia, Due To Pterin-4-Alpha-Carbinolamine Dehydratase Deficiency

OMIM

Gene	Locus	Protein
PCBD1	10q22	Pterin-4-alpha-carbinolamine dehydratase

Laboratory	Test Method	Prenatal	Carrier *
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany	• Sequence analysis of the entire coding region
PerkinElmer Genetics, Inc. - Bridgeville, PA, USA	• Analyte

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.