Conditions / Genetic
BH4-deficient hyperphenylalaninemia D
info · Genetic
A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by mild transient hyperphenylalaninemia often detected by newborn screening and that has_material_basis_in homozygous or compound heterozygous mutation in the PCBD gene, which en
A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by mild transient hyperphenylalaninemia often detected by newborn screening and that has_material_basis_in homozygous or compound heterozygous mutation in the PCBD gene, which encodes an enzyme involved in the salvage pathway for BH4, on chromosome 10q22.
Signs and symptoms
- Elevated urinary 7-biopterin level
- Hypertonia
- Transient hyperphenylalaninemia
- Hyperphenylalaninemia
- Tremor
- Generalized hypotonia
- Motor delay
Also known as: tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency