Common genetic disorders include lysosomal storage disorders and peroxisomal disorders such as Zellweger syndrome and adrenoleukodystrophy. Other genetic disorders include galactosemia, phenylketonuria and metal metabolism disorders such as Wilson's disease and hemochromatosis, reports WebMD.Continue Reading
Lysosomal storage disorders result from enzyme deficiencies inside lysosomes, which are the spaces between cells that break down waste produced following metabolism. Toxic substances may accumulate in the body, resulting in developmental delays and metabolic disorders such as Hurler syndrome or Krabbe disease. Similarly, peroxisomal disorders are caused by poor enzyme function that produces toxic buildup and results in metabolic disorders. Zellweger syndrome is characterized by nerve damage, an enlarged liver and abnormal facial features. Another peroxisomal disorder, adrenoleukodystrophy, also involves nerve damage that develops in childhood or early adulthood, according to WebMD.
Galactosemia involves the breakdown of galactose and may result in vomiting, jaundice or liver enlargement in infants. Phenylketonuria, the deficiency of the PAH enzyme in the body, may result in mental retardation if left undetected. Metal metabolism disorders resulting from protein malfunction may lead to the accumulation of toxins in the body. Wilson's disease is characterized by the accumulation of toxic copper in the brain, liver or other organs. Hemochromatosis involves excess iron absorption by the liver and may result in liver, pancreas or heart damage, according to WebMD.Learn more about Conditions & Diseases