Ornithine carbamoyltransferase deficiency

Ornithine carbamoyltransferase deficiency is an X-linked inborn error of metabolism and the most common disorder of the urea cycle This enzymatic block primarily affects the hepatic urea cycle and central nervous system, resulting in the systemic accumulation of neurotoxic ammonia and excessive urinary excretion of orotic acid Clinical manifestations range from catastrophic neonatal hyperammonemic encephalopathy, lethargy, seizures, and coma in hemizygous males to late-onset episodic confusion, ...

Ornithine carbamoyltransferase deficiency is an X-linked inborn error of metabolism and the most common disorder of the urea cycle This enzymatic block primarily affects the hepatic urea cycle and central nervous system, resulting in the systemic accumulation of neurotoxic ammonia and excessive urinary excretion of orotic acid Clinical manifestations range from catastrophic neonatal hyperammonemic encephalopathy, lethargy, seizures, and coma in hemizygous males to late-onset episodic confusion, ...

Ornithine carbamoyltransferase deficiency is an X-linked inborn error of metabolism and the most common disorder of the urea cycle It is caused by pathogenic variants in the *OTC* gene, leading to deficient mitochondrial ornithine carbamoyltransferase activity and the failure to convert carbamoyl phosphate and ornithine into citrulline

It is caused by pathogenic variants in the *OTC* gene, leading to deficient mitochondrial ornithine carbamoyltransferase activity and the failure to convert carbamoyl phosphate and ornithine into citrulline

This enzymatic block primarily affects the hepatic urea cycle and central nervous system, resulting in the systemic accumulation of neurotoxic ammonia and excessive urinary excretion of orotic acid