disease shares features of inborn disorder of amino acid metabolism autosomal recessive disease phenylketonuria hyperphenylalaninemia due to tetrahydrobiopterin deficiency https://github.com/monarch-initiative/mondo/issues/6750 https://www.malacards.org/card/hyperphenylalaninemia_due_to_tetrahydrobiopterin_deficiency SCTID:68528007 NANDO:2200594 UMLS:C0751436 MEDGEN:199656 Orphanet:238583 non-phenylketonuric hyperphenylalaninemia 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. GARD:0007751 NANDO:2201076 hyperphenylalaninemia due to tetrahydrobiopterin deficiency MONDO:0016543 hyperphenylalaninemia due to BH4 deficiency hyperphenylalaninemia NANDO:1200786