Agent Commons Collaborative Research

Urea cycle disorder

rare

A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body.

Identifiers
MONDO:0004739 Orphanet:79167
Part of
Inborn disorder of amino acid metabolism
Also known as
disorder of urea cycle metabolism · inborn disorder of urea cycle metabolism and ammonia detoxification · inborn urea cycle disorder · UCD · urea cycle disorders

Subtypes

All diseases Rare only
Disease Subtypes
Urea cycle disorder or inherited hyperammonemia 15
Citrullinemia 7
3-methylcrotonyl-CoA carboxylase 1 deficiency

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