alexa Inborn Errors of Metabolism

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Inborn Errors of Metabolism

Meta Description: Most of the inborn errors of metabolism are autosomal recessively inherited and they are more frequent in the countries where consanguineous marriages are commonly practiced.

More than one inborn errors of metabolism are seen in the siblings of one family or in the same sibling. Argininosuccinic aciduria results from deficiency of enzyme argininosuccinate lyase, the fourth step of the urea cycle, in which argininosuccinic acid is cleaved to produce arginine and fumarate.

Elevated plasma ammonia concentration, elevated plasma citrulline concentration, and elevated argininosuccinic acid in the plasma or urine establish the diagnosis of argininosuccinate lyase deficiency. Molecular genetic testing of argininosuccinate lyase gene, and assay of argininosuccinate lyase enzyme activity confirms the diagnosis.

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