hyperphenylalaninemia due to tetrahydrobiopterin deficiency
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.
MONDO:0004736
inborn disorder of amino acid metabolism
is_a
MONDO:0006025
autosomal recessive disease
is_a
hyperphenylalaninemia
broad
hyperphenylalaninemia due to BH4 deficiency
exact
hyperphenylalaninemia due to tetrahydrobiopterin deficiency
exact
non-phenylketonuric hyperphenylalaninemia
exact
SPAC17A5.13 SPAC27D7.04