Home > Encyclopedia of Genetic Disorders > Organic acidemias

Definition

Organic acidemias are a collection of amino and fatty acid oxidation disorders that cause non-amino organic acids to accumulate and be excreted in the urine.

Description

Organic acidemias are divided into two categories: disorders of amino acid metabolism and disorders involving fatty acid oxidation. There are several dozen different organic acidemia disorders. They are caused by inherited deficiencies in specific enzymes involved in the breakdown of branched-chain amino acids, lysine, and tryptophan, or fatty acids. Some have more than one cause.

Amino acids are chemical compounds from which proteins are made. There are about 40 amino acids in the human body. Proteins in the body are formed through various combinations of roughly half of these amino acids. The other 20...