HYPERPHENYLALANINEMIA DUE TO PTERIN-4a-CARBINOLAMINE DEHYDRATASE

Question 1

What is  HYPERPHENYLALANINEMIA DUE TO PTERIN-4a-CARBINOLAMINE DEHYDRATASE?

Accepted Answer

rare
autosomal recessive
mutation in the PCBD gene
benign form of hyperphenylalaninemia [Thony et al. 1998]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hyperphenylalaninämie; Pterin-4-alpha-Carbinolamin-Dehydratase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 264070

Question 4

Which enzymes are involved?

Accepted Answer

Pterin-4-alpha-carbinolamine dehydratase

Disease	HYPERPHENYLALANINEMIA DUE TO PTERIN-4a-CARBINOLAMINE DEHYDRATASE
Synonym	PTERIN-4a-CARBINOLAMINE DEHYDRATASE DEFICIENCY; PRIMAPTERINURIA; PCD DEFICIENCY
OMIM	264070 OMIM = Online Mendelian Inheritance of Men
Orphanet	1578
Protein (UniProt)	Pterin-4-alpha-carbinolamine dehydratase
ExPASy	4.2.1.96
Gene locus	10q22
ICD	E70.1
Summary	rare autosomal recessive mutation in the PCBD gene benign form of hyperphenylalaninemia [Thony et al. 1998]
Laboratory findings	Primapterin inc (urine) Biopterin inc (urine) Magnesium normal/dec (plasma) Magnesium inc (urine) Neopterin inc (urine) Phenylalanine inc (plasma) Primapterin inc (urine) Tetrahydrobiopterin (BH4) loadingTest (blood)
Symptoms	diabetes mellitus EEG abnormalities [-] hypertonia, spasticity hypotonia onset, infancy onset, neonatal