What Are the Common Types of Inherited Metabolic Disorders?
Several types of inherited metabolic disorders are observed, each affecting different metabolic pathways. Some common examples include:
- Phenylketonuria (PKU): A disorder characterized by an inability to metabolize the amino acid phenylalanine, leading to its accumulation and potential [neurotoxicity](href=""). - Maple Syrup Urine Disease (MSUD): This disorder results from a defect in the metabolism of branched-chain amino acids, causing a build-up of toxic compounds. - Gaucher's Disease: A lysosomal storage disorder caused by enzyme defects leading to the accumulation of fatty substances in organs. - Fabry Disease: Resulting from a deficiency of the enzyme alpha-galactosidase A, it leads to the accumulation of globotriaosylceramide, causing damage to various body systems.
