Hyperphenylalaninemia, BH4-Deficient, A

Alternative Names

  • HPABH4A
  • Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, due to PTS Deficiency
  • 6-Pyruvoyl-Tetrahydropterin synthase deficiency
  • PTS Deficiency
  • Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, due to Partial PTS Deficiency
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

261640

Mode of Inheritance

Autosomal recessive

Gene Map Locus

11q23.1

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 (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. [From Orphanet]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
261640.1Saudi ArabiaMaleYes Hyperphenylalaninemia; Delayed speech an...NM_000317.3:c.238A>GHomozygousAutosomal, RecessiveAlmannai et al. 2019
261640.2Saudi ArabiaFemaleYes Hyperphenylalaninemia; Failure to thrive...NM_000317.3:c.238A>GHomozygousAutosomal, RecessiveAlmannai et al. 2019
261640.3Saudi ArabiaFemaleYes Hyperphenylalaninemia; Small for gestati...NM_000317.3:c.166GTG[1]HomozygousAutosomal, RecessiveAlmannai et al. 2019
261640.4Saudi ArabiaFemaleYes Hyperphenylalaninemia; Small for gestati...NM_000317.3:c.166GTG[1]HomozygousAutosomal, RecessiveAlmannai et al. 2019
261640.5Saudi ArabiaMaleYes Hyperphenylalaninemia; Motor delayNM_000317.3:c.238A>GHomozygousAutosomal, RecessiveAlmannai et al. 2019
261640.6Saudi ArabiaMaleYes Hyperphenylalaninemia; Neonatal hypotoni...NM_000317.3:c.2T>GHomozygousAutosomal, RecessiveAlmannai et al. 2019
261640.7Saudi ArabiaMaleNo HyperphenylalaninemiaNM_000317.3:c.238A>GHomozygousAutosomal, RecessiveAlmannai et al. 2019
261640.8Saudi ArabiaFemaleYes HyperphenylalaninemiaNM_000317.3:c.238A>GHomozygousAutosomal, RecessiveAlmannai et al. 2019
261640.9Saudi ArabiaFemaleYes Hyperphenylalaninemia; Neonatal hypotoni...NM_000317.3:c.342C>GHomozygousAutosomal, RecessiveAlmannai et al. 2019
261640.10Saudi ArabiaMaleYes Hyperphenylalaninemia; Global developmen...NM_000317.3:c.342C>GHomozygousAutosomal, RecessiveAlmannai et al. 2019
261640.11Saudi ArabiaMaleYes Hyperphenylalaninemia; Global developmen...NM_000317.3:c.342C>GHomozygousAutosomal, RecessiveAlmannai et al. 2019
261640.12Saudi ArabiaFemaleYes Hyperphenylalaninemia; Global developmen...NM_000317.3:c.342C>GHomozygousAutosomal, RecessiveAlmannai et al. 2019
261640.13Saudi ArabiaMaleNo Hyperphenylalaninemia; Eczema; Delayed s...NM_000317.3:c.238A>GHomozygousAutosomal, RecessiveAlmannai et al. 2019
261640.14.1Saudi ArabiaMaleYesNo Hyperphenylalaninemia; Neonatal seizure;...NM_000317.3:c.155A>GHomozygousAutosomal, RecessiveAlmannai et al. 2019
261640.14.2Saudi ArabiaFemaleYesYes Hyperphenylalaninemia; Failure to thrive...NM_000317.3:c.155A>GHomozygousAutosomal, RecessiveAlmannai et al. 2019
261640.15.1OmanMaleYesYes Hyperphenylalaninemia; Lethargy; Failure...NM_000317.3:c.400G>AHomozygousAutosomal, RecessiveAlmannai et al. 2019
261640.15.2OmanFemaleYesYes Hyperphenylalaninemia; Delayed speech an...NM_000317.3:c.400G>AHomozygousAutosomal, RecessiveAlmannai et al. 2019
261640.16OmanMaleYes Hyperphenylalaninemia; Lethargy; Irritab...NM_000317.3:c.367C>THomozygousAutosomal, RecessiveAlmannai et al. 2019
261640.17OmanMaleYes Hyperphenylalaninemia; Dystonia; Small f...NM_000317.3:c.367C>THomozygousAutosomal, RecessiveAlmannai et al. 2019
261640.18OmanFemaleYes Hyperphenylalaninemia; Dystonia; Small f...NM_000317.3:c.367C>THomozygousAutosomal, RecessiveAlmannai et al. 2019
261640.19EgyptFemaleYes Hyperphenylalaninemia; Small for gestati...NM_000317.3:c.200C>THomozygousAutosomal, RecessiveAlmannai et al. 2019
261640.20SudanFemaleYes Hyperphenylalaninemia; Small for gestati...NM_000317.3:c.200C>THomozygousAutosomal, RecessiveAlmannai et al. 2019
261640.21.1Saudi ArabiaFemaleYesYes Hyperphenylalaninemia; Neonatal hypotoni...NM_000317.3:c.238A>GHomozygousAutosomal, RecessiveAlmannai et al. 2019
261640.21.2Saudi ArabiaMaleYesYes Hyperphenylalaninemia; Neonatal hypotoni...NM_000317.3:c.238A>GHomozygousAutosomal, RecessiveAlmannai et al. 2019
261640.21.3Saudi ArabiaMaleYesYes Hyperphenylalaninemia; Neonatal hypotoni...NM_000317.3:c.238A>GHomozygousAutosomal, RecessiveAlmannai et al. 2019
261640.22Saudi ArabiaFemaleYes Hyperphenylalaninemia; Small for gestati...NM_000317.3:c.166GTG[1]HomozygousAutosomal, RecessiveAlmannai et al. 2019
261640.23Saudi ArabiaFemaleYes Hyperphenylalaninemia; Small for gestati...NM_000317.3:c.166GTG[1]HomozygousAutosomal, RecessiveAlmannai et al. 2019
261640.24Saudi ArabiaFemaleYes Hyperphenylalaninemia; Seizure; Small fo...NM_000317.3:c.238A>GHomozygousAutosomal, RecessiveAlmannai et al. 2019

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 one patient diagnosed with 6-PTS deficiency. The patient was diagnosed at 4-months of age. 

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