Carbonic Anhydrase VA Deficiency, Hyperammonemia due to

Alternative Names

  • CA5AD

Associated Genes

Carbonic Anhydrase VA
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

615751

Mode of Inheritance

Autosomal recessive

Gene Map Locus

16q24.2

Description

Carbonic anhydrase VA deficiency is an autosomal recessive inborn error of metabolism characterized clinically by acute onset of encephalopathy in infancy or early childhood. Biochemical evaluation shows multiple metabolic abnormalities, including metabolic acidosis and respiratory alkalosis. Other abnormalities include hypoglycemia, increased serum lactate and alanine, and evidence of impaired provision of bicarbonate to essential mitochondrial enzymes. Apart from episodic acute events in early childhood, the disorder shows a relatively benign course. Treatment with carglumic acid can result in neurologic improvement. [From OMIM]

Epidemiology in the Arab World

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