Argininemia

Alternative Names

  • Arginase Deficiency
  • Hyperargininemia
  • ARG1 Deficiency

Associated Genes

Arginase 1
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

207800

Mode of Inheritance

Autosomal recessive

Gene Map Locus

6q23.2

Description

Argininemia is an autosomal recessive error of metabolism that is classified as a urea cycle disorder. This disease is caused by a deficiency or a defect in the cytosol liver type arginase AI enzyme (L-arginine urea-hydrolase). This enzyme controls the final step of the urea cycle, which is necessary to rid the body of the nitrogen generated by metabolism, primarily of amino acids, originating from diet or from endogenous catabolism. Arginase is responsible for the hydrolysis of arginine to ornithine and urea which can then be excreted from the body in urine. If this step of the urea cycle cannot be performed as in the case of arginase deficiency; accumulation of excessive nitrogen in the form of ammonia in the blood (hyperammonemia), as well as arginine in the blood (hyperarginemia) and cerebrospinal fluid will occur. The accumulation of ammonia and arginine are believed to cause neurological problems and other signs and symptoms of arginase deficiency.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
207800.1SyriaUnknown HyperammonemiaNM_000045.4:c.130+1G>AHomozygousAutosomal, RecessiveAl-Jasmi at al. 2016 UAE resident of Syri...

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 a single patient diagnosed with Hyperagininemia. The diagnosis was made at 2-months of age. 

Palestine

Korman et al. (2004) diagnosed arginase deficiency in a 3-year-old male child of first-cousin parents. 

Saudi Arabia

Grody et al. (1992) explored the molecular pathology  for liver arginase deficiency  in a cohort that included a Saudi father and his child. In the child, loss of a TaqI cleavage site was identified in a homozygous state. Grody et al. (1992) speculated that this TaqI mutation lies outside exon 8 of the ARG1 gene.

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