HYPERPHENYLALANINEMIA DUE TO PTERIN-4a-CARBINOLAMINE DEHYDRATASE | |
PTERIN-4a-CARBINOLAMINE DEHYDRATASE DEFICIENCY; PRIMAPTERINURIA; PCD DEFICIENCY | |
264070
OMIM = Online Mendelian Inheritance of Men | |
1578 | |
Pterin-4-alpha-carbinolamine dehydratase | |
4.2.1.96 | |
10q22 |
|
E70.1 | |
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 |