Orphanet: Hyperphenylalaninemia due to tetrahydrobiopterin deficiency

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Hyperphenylalaninemia due to tetrahydrobiopterin deficiency

Disease 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; see this term) 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.

ORPHA:238583

Classification level: Disorder

Synonym(s):
- Hyperphenylalaninemia due to BH4 deficiency
- Non-phenylketonuric hyperphenylalaninemia
Prevalence: 1-9 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Neonatal, Infancy
ICD-10: E70.1
OMIM: 233910 261630 261640 264070
UMLS: C0751435 C0751436
MeSH: -
GARD: 7751
MedDRA: -

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Hyperphenylalaninemia due to tetrahydrobiopterin deficiency

ORPHA:238583

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