What are examples of inborn error of metabolism?
What are examples of inborn error of metabolism?
Inborn error of metabolism: A heritable disorder of biochemistry. Examples of inborn errors of metabolism include albinism, cystinuria (a cause of kidney stones), phenylketonuria (PKU), and some forms of gout, sun sensitivity, and thyroid disease.
Which of the following are examples of inborn errors of metabolism select all that apply?
Examples of inborn errors of metabolism include:
- Fructose intolerance.
- Galactosemia.
- Maple syrup urine disease (MSUD)
- Phenylketonuria (PKU)
- Fatty acid oxidation defects.
- Lysosomal storage disorders.
- Mitochondrial disorders.
What are common metabolic disorders?
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 Hunter syndrome disease?
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.
How do you test for inborn errors of metabolism?
Inborn errors of metabolism can present in utero; in newborns; or in children, adolescents, and adults. Some IEM can be detected in utero with the use of ultrasonography. Most commonly, IEM are detected at newborn screening.
Is diabetes an inborn errors of metabolism?
Inborn errors of metabolism (IEM) are heterogeneous group of disorders that might present in the clinics or emergency departments in different phenotypes, and one of these is a diabetes scenario. Diabetes is the most common endocrine disorder among children.
Which is true of the most common metabolic disorder?
Diabetes is the most common metabolic disease.
