- Familial hypercholesterolemia.
- Gaucher disease.
- Hunter syndrome.
- Krabbe disease.
- Maple syrup urine disease.
- Metachromatic leukodystrophy.
- Mitochondrial encephalopathy, lactic acidosis, stroke-like episodes (MELAS)
What is a defective enzyme?
Medical Definition of Enzyme defectEnzyme defect: A disorder resulting from a deficiency (or functional abnormality) of an enzyme. For example, newborns are routinely screened for certain enzyme defects, such as phenylketonuria (PKU) and galactosemia.
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.
What happens if an enzyme is missing or defective?
What is phenylketonuria? Phenylketonuria (PKU) is a rare genetic condition that causes an amino acid called phenylalanine to build up in the body. PKU is caused by a defect in the gene that helps create phenylalanine hydroxylase. When this enzyme is missing, your body can’t break down phenylalanine.
What is an example of a metabolic disease?
A metabolic disorder occurs when abnormal chemical reactions in your body disrupt this process. You can develop a metabolic disorder when some organs, such as your liver or pancreas, become diseased or do not function normally. Diabetes is an example.