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