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MCAD

Mitochondrial Disease Types

MCAD

Long Name: Medium-Chain Acyl-CoA Dehydrongenase Deficiency

Symptoms: Afflicts infants or young children with episodes of encephalopathy, enlarged and fatty degeneration of the liver, and low carnitine in the blood.

Cause: Autosomal recessive

Treatment: See Beta-oxidation Defects

Links: https://rarediseases.info.nih.gov/diseases/540/medium-chain-acyl-coenzyme-a-dehydrogenase-deficiency

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MAD / Glutaric Aciduria Type II
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Mission of UMDF

To promote research and education for the diagnosis, treatment and cure of mitochondrial disorders and to provide support to affected individuals and families.

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