Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
Definition
Hyperphenylalaninemia (HPA) due to tetrahydrobiopterin (BH4) deficiency, also known as malignant HPA is an amino acid disorder with neonatal onset that is clinically characterized by the classic manifestations of phenylketonuria (PKA) and that later on is clinically differentiated by neurologic symptoms such as microcephaly, intellectual disability, central hypotonia, delayed motor development, peripheral spasticity and seizures, that develop and persist despite an established metabolic control of plasma phenylalanine.
Also known as hyperphenylalaninemia due to BH4 deficiency, hyperphenylalaninemia due to tetrahydrobiopterin deficiency, non-phenylketonuric hyperphenylalaninemia — per MONDO