Catalog

Ornithine carbamoyltransferase deficiency

No MMS code

Link to WHO Definition

Ornithine carbamoyltransferase deficiency – http://id.who.int/icd/entity/1822444026

Ornithine carbamyl transferase deficiency is a disorder or urea cycle metabolism which clinical presentation depends on the amount of residual enzyme activity, ranging from very severe neonatal hyperammonemic coma in males with no enzyme activity, to juvenile or adult hyperammonemic coma in males with residual enzyme activity. Females can be either asymptomatic or present with dislike for proteins to chronic vomiting, growth retardation, hypotonia, psychomotor retardation, hyperammonemic coma, or psychiatric disorders.