Diseases Caused By Enzyme Deficiency?

Examples include:

  • Familial hypercholesterolemia.
  • Gaucher disease.
  • Hunter syndrome.
  • Krabbe disease.
  • Maple syrup urine disease.
  • Metachromatic leukodystrophy.
  • Mitochondrial encephalopathy, lactic acidosis, stroke-like episodes (MELAS)
  • Niemann-Pick.

What is an enzyme deficiency disease?

Enzyme deficiencies, or the absence of these enzymes, are inherited defects that result in a number of life-changing or life-threatening conditions: MPS: The mucopolysaccharidoses are a group of inherited diseases in which a defective or missing enzyme causes complex sugar molecules to accumulate in cells.

What genetic disorder is associated with the lack of an enzyme?

Hunter syndrome is a very rare, inherited genetic disorder caused by a missing or malfunctioning enzyme. In Hunter syndrome, the body doesn’t have enough of the enzyme iduronate 2-sulfatase.

Are enzyme deficiencies common?

Enzyme deficiency anemiasThe two most common defects are glucose-6-phosphate dehydrogenase (G6PD) deficiency and pyruvate kinase (PK) deficiency.

What are common metabolic disorders?

The most common of these are: sickle cell anemia in African Americans. cystic fibrosis in people of European heritage. maple syrup urine disease in Mennonite communities.

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