Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023
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Preferred Name

hyperphenylalaninemia due to tetrahydrobiopterin deficiency
Synonyms

hyperphenylalaninemia

non-phenylketonuric hyperphenylalaninemia

hyperphenylalaninemia due to BH4 deficiency

hyperphenylalaninemia due to tetrahydrobiopterin deficiency
Definitions

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.
ID

http://purl.obolibrary.org/obo/MONDO_0016543
altLabel

hyperphenylalaninemia

non-phenylketonuric hyperphenylalaninemia

hyperphenylalaninemia due to BH4 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.
disease shares features of

http://purl.obolibrary.org/obo/MONDO_0009861
has_broad_synonym

hyperphenylalaninemia
has_exact_synonym

non-phenylketonuric hyperphenylalaninemia

hyperphenylalaninemia due to BH4 deficiency

hyperphenylalaninemia due to tetrahydrobiopterin deficiency
label

hyperphenylalaninemia due to tetrahydrobiopterin deficiency
prefixIRI

MONDO:0016543
prefLabel

hyperphenylalaninemia due to tetrahydrobiopterin deficiency
textual 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.
subClassOf

http://purl.obolibrary.org/obo/MONDO_0017756

http://purl.obolibrary.org/obo/MONDO_0006025
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