Types of Metabolic Diseases

• 01 Disorders of Carbohydrate Metabolism

  Disorders include diabetes, glycogen storage disease, galactosemia and fructose intolerance, induced by metabolic disorders of glucose or other sugars affecting energy supply and body function.

• 02 Disorders of Lipid Metabolism

  Disorders include hyperlipidemia, hypercholesterolemia and familial hypercholesterolemia, fatty acid oxidation disorders(e.g. CPT deficiency), lipid storage disease(e.g. gaucher disease and Niemann-Pick disease).

• 03 Disorders of Amino Acid Metabolism

  Abnormalities refer to metabolic disorders of protein decomposition products. Common diseases include phenylketonuria, maple syrup urine disease(MSUD), hyperhomocysteinemia, tyrosinemi and hyperammonemia etc, possibly affecting nervous system and systemic metabolic function.

• 04 Disorders of Organic Acid Metabolism

  Disorders can cause accumulation of organic acids in the body and toxic reaction. Common diseases propionic acidemia, methylmalonic acidemia and isovaleric acidemia, possibly damaging function of multiple organs.

• 05 Disorders of Nucleotide Metabolism

  Metabolic disorders of purine and pyrimidine can cause diseases and severe nerve dysfunction like arthrolithiasis(excessive uric acid) and Lesch-Nyhan syndrome affecting various systems.

• 06 Disorders of Vitamins and Minerals Metabolism

  Deficiency or metabolic disorders of vitamins can cause various diseases affecting physical health, e.g. vitamin D deficiency rickets, abnormal copper metabolism in Wilson's disease, abnormal iron metabolism in hemochromatosis.

• 07 Multisystem Metabolic Syndromes

  Abnormal metabolic pathways cause metabolic syndromes, including obesity, hyperglycemia, hypertension and hyperlipemia. Mitochondrial diseases affect various metabolic functions and induce systemic metabolic disorders.