Disease Information for MCAD/Medium chain OH-CoA Dehydrogenase def

Synonyms:

Medium chain acetyl coenzyme A dehydrogenase deficiency

Definition:

Medium chain Hydroxyacyl-CoA dehydrogenase deficiency (MCAD)is a metabolic enzyme deficiency extremely rare syndrome; This presents as episodes of infant lethargy, hypoglycemia, floppy baby syndrome; hepatomegaly, coma and death possible; Also failure to thrive and SIDS occur; Diet restriction and frequent feedings treatment; Onset is age one or earlier when first night time feeding stopped;-----------------------------------------------------

Medium Chain Acyl CoA Dehydrogenase Deficiency; ACADM Deficiency; Carnitine Deficiency Secondary to MCAD Deficiency; Dicarboxylicaciduria due to MCADH Deficiency; Dicarboxylicaciduria due to defect in Beta-Oxidation of Fatty Acids; MCAD Deficiency; Nonketotic Hypoglycemia and Carnitine Deficiency due to MCAD Deficiency;

Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency is a very rare inherited metabolic disorder characterized by a deficiency of the enzyme medium chain acyl-CoA dehydrogenase; This enzyme is found to be most active in the liver, certain white blood cells (leukocytes), and certain connective tissue cells (fibroblasts) and is necessary for the breakdown (oxidation) of certain fats (medium chain fatty acids); Failure to break down these fats can lead to the abnormal accumulation of fatty acids in the liver and the brain; Abnormally low levels of the MCAD enzyme may also hamper or interrupt other processes associated with the metabolism of fatty acids; In infants with MCAD Deficiency, symptoms may include recurrent episodes of unusually low levels of a certain sugar (glucose) in the blood (hypoglycemia), lack of energy (lethargy), vomiting, and/or liver malfunction; These symptoms are most frequently triggered when an affected infant does not eat for an extended period of time (fasting); In some cases, a viral illness (eg, upper respiratory infection) that limits food intake may cause the symptoms to occur; MCAD Deficiency is the most common disease in a group of disorders that involve abnormalities of fatty acid metabolism; Medium Chain Acyl-CoA Dehydrogenase Deficiency is inherited as an autosomal recessive genetic trait; [NORD]

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