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hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency

Disease Summary
Associated Targets (1)
Tclin

1


GARD Rare
Uniprot Description An autosomal recessive inborn error of metabolism, clinically characterized by infantile hyperammonemic encephalopathy. Metabolic abnormalities include hypoglycemia, hyperlactatemia, metabolic acidosis and respiratory alkalosis.
Mondo Term and Equivalent IDs
MONDO:0014332:  hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GARD:0013201: 
Orphanet:401948: 
SCTID:764456001: 
UMLS:C3810404: