Genetic metabolic diseases

Compared to other hereditary diseases, genetic metabolic disorders are quite common and extremely heterogeneous. They range from severe forms manifesting in utero or early childhood to mild, late-onset disorders. In some cases, results from newborn screening provide evidence of a specific metabolic disorder. Impairments can occur in the metabolism of carbohydrates, amino acids, lipids or energy.

These include:

• Phenylketonuria
• Mucopolysaccharidosis
• Smith-Lemli-Opitz syndrome
• Alpha-1 antitrypsin deficiency
• Adrenogenital syndrome
• MODY (Maturity Onset Diabetes of the Young)-Diabetes
• Familial hypercholesterolemia
• Hemochromatosis
• Porphyria
• Disorders of the oxidation of long-chain fatty acids (e.g. VLCAD and MCAD deficiency)

Since some metabolic diseases are treatable by specific therapies, such as enzyme replacement therapy (e.g. Fabry and Pompe disease) or special diets, early detection and diagnosis are critical to the course of the disease and the severity of its clinical manifestations.