Inborn Errors of Metabolism.

Abstract excerpt

Inborn errors of metabolism are single gene disorders resulting from the defects in the biochemical pathways of the body. Although these disorders are individually rare, collectively they account for a significant portion of childhood disability and deaths. Most of the disorders are inherited as autosomal recessive whereas autosomal dominant and X-linked disorders are also present. The clinical signs and symptoms...

Topics

• Genetic Predisposition to Disease
• Global Health
• Humans
• Metabolism, Inborn Errors