Inherited Metabolic Disorders

Types

Inherited metabolic disorders fall into different categories, depending on whether a specific substance (such as amino acids, fats, proteins or carbohydrates) builds up in harmful amounts or is too low or missing. There are thousands of inherited metabolic disorders, caused by different genetic defects. Examples include:

• Congenital adrenal hyperplasia
• Gaucher's disease
• Hunter syndrome
• Krabbe disease
• Metachromatic leukodystrophy
• Niemann-Pick disease
• Phenylketonuria (PKU)
• Porphyria
• Tay-Sachs disease
• Wilson's disease