Organic Acid

Methylmalonic Acidemia with Homocystinuria (Cbl C, D, F)

Methylmalonic acidemia with homocystinuria (Cbl C, D, F) is one type of methylmalonic acidemia. Individuals with this form of methylmalonic acidemia have trouble producing certain cobalamin enzymes, which causes harmful levels of homocysteine and methylmalonic acid to build up in

Isobutyrylglycinuria (IBG)

Isobutyrylglycinuria (IBG) is an inherited condition in which the body is unable to break down certain proteins, which can lead to a harmful amount of organic acids and other toxins in the body. Symptoms of the condition vary. IBG is

2-Methylbutyrylglycinuria (2MGB)

2-methylbutyrylglycinuria (2MBG) is an inherited condition in which the body is unable to break down certain proteins, which can lead to a harmful amount of organic acids and toxins in the body. Signs of 2MBG often begin at infancy, sometimes

3-Methylglutaconic Aciduria (3MGA)

3-Methylglutaconic aciduria (3MGA) is the name for a group of five different conditions. All conditions affect the body’s mitochondria, the part of a human cell that produces energy. The causes, symptoms, and treatment of the five different types of 3MGA

2-Methyl-3-Hydroxybutyric (2M3HBA)

2-methyl-3-hydroxybutyric (2M3HBA) is an inherited condition in which the body is unable to break down certain proteins. This condition may also affect the body’s ability to break down certain fatty acids and to regulate some activities of the nervous system.

Ethylmalonic Encephalopathy (EME)

Ethylmalonic encephalopathy (EME) is an inherited condition that affects many systems of the body. Usually, signs of EME are evident at birth or begin in the first few months of life. Signs of EME include progressively delayed development, cardiovascular problems,