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HYPERPHENYLALANINEMIA DUE TO PTERIN-4a-CARBINOLAMINE DEHYDRATASE

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 findingsPrimapterin 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