Hyperphenylalaninemia, BH4-Deficient, C

Alternative Names

  • HPABH4C
  • Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, due to DHPR Deficiency
  • Dihydropteridine Reductase Deficiency
  • DHPR Deficiency
  • Quinoid Dihydropteridine Reductase Deficiency
  • QDPR Deficiency
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

261630

Mode of Inheritance

Autosomal recessive

Gene Map Locus

4p15.32

Description

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 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. [From Orphanet]

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
261630.1LebanonFemaleYes Generalized tonic seizure; Hyperphenyla...NM_000320.3:c.643T>CHomozygousAutosomal, RecessiveKaram et al. 2011
261630.2United Arab EmiratesUnknown HyperphenylalaninemiaNM_000320.3:c.49G>CHomozygousAutosomal, RecessiveAl-Jasmi at al. 2016 Mutation identified ...

Other Reports

Lebanon

In a retrospective analysis of IEMs diagnosed over a 12-year period (1998-2010) in a hospital in Lebanon, Karam et al. (2013) found two patients diagnosed with DHPR Deficiency. Both patients were diagnosed by newborn screening. 

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