Prenatal molecular evaluation of six fetuses in four unrelated Korean families with ornithine transcarbamylase deficiency.

Abstract excerpt

Ornithine transcarbamylase (OTC) deficiency, an X-linked inborn error of the urea cycle, leads to the accumulation of ammonia, causing neurologic deficits. Clinical management for the patients with OTC deficiency is frustrating and requires a burdensome medical regimen, since they may have impair...

Topics

• Amino Acid Metabolism, Inborn Errors
• Evaluation Studies as Topic
• Female
• Fetus
• Humans
• Korea
• Male
• Mutation
• Ornithine Carbamoyltransferase
• Ornithine Carbamoyltransferase Deficiency Disease
• Pedigree
• Pregnancy
• Prenatal Diagnosis