Metabolic Disorders List

Another group mitochondrial diseases affects the parts of the cells that produce the energy.

Metabolic disorders list. Many but not all of these conditions can be detected through newborn screening programs. Tay sachs is a disease that causes a progressive deterioration of the body s brain and neurological system. List of metabolic diseases. Diabetes is a metabolic disorder consisting of excess sugar in the blood or urine.

3 alpha hydroxyacyl coa dehydrogenase deficiency. There are two types. Diabetes insipidus caused by lack of hormone vasopressin and diabetes mellitus caused by alterations in sugar metabolism. This metabolic disorder is most common in people of european heritage.

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. 8 most commonly occurring metabolic disorders 1. 17 beta hydroxysteroid dehydrogenase 3 deficiency.

This metabolic disease is common amongst african americans. Familial hypercholesterolemia gaucher disease hunter syndrome krabbe disease maple syrup urine disease metachromatic leukodystrophy mitochondrial encephalopathy lactic acidosis stroke like episodes melas niemann pick phenylketonuria pku porphyria tay sachs disease wilson s. Failure to gain weight or grow. It is inherited and is marked by a.

High bilirubin levels in adults. The condition can lead to. We specialize in the diagnosis and treatment of inborn errors of metabolism including organic acidemias urea cycle defects fatty acid oxidation defects glycogen storage disorders lysosomal storage disorders and mitochondrial diseases among others.