Clinical heterogeneity, genotype, and neurological outcomes in six Palestinian patients with ornithine transcarbamylase deficiency.

Abstract excerpt

BACKGROUND: Ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle disorder. This X-linked condition, mapped to Xp21.1, results from a deficiency of the mitochondrial enzyme ornithine transcarbamylase, which catalyzes a critical step in ureagenesis. Disease severity ranges from a complete enzymatic block, presenting as neonatal hyperammonemic coma with high mortality, to partial deficiencies...

Topics

Join the communities discussing this publication.

• Arabs
• Child
• Child, Preschool
• Hyperammonemia
• Infant