mechanisms

What are Metabolic Disorders in Neonates?

Metabolic disorders like phenylketonuria (PKU) and galactosemia are inherited conditions that affect the body's ability to process certain nutrients. In PKU, a defect in the enzyme phenylalanine hydroxylase leads to the accumulation of phenylalanine, causing brain damage if left untreated. Galactosemia, caused by a deficiency in the enzyme galactose-1-phosphate uridyltransferase, leads to the buildup of galactose, resulting in liver damage, cataracts, and intellectual disability.

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