Molecular Genetic Testing for Metabolic Disorders

摘要: Inborn errors of metabolism represent a highly diverse group genetic disorders. Individually the disorders are rare. The most prevalent, phenylketonuria (PKU), affects approximately 1 in 10,000 individuals. However, because numerous metabolic exist, collectively they estimated to affect as many 600 clinical consequences such broad and can be severe, with progressive neurological impairment, mental retardation (MR), organomegaly, high morbidity. Their mode inheritance is usually autosomal recessive but also Xlinked. Metabolic result from defects individual enzymes pathways that govern different aspects distinct compartments within cell.