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MCAD DeficiencyAka: Medium-Chain-Acyl-CoA-Dehydrogenase Deficiency

See Also
1. Inborn Errors of Metabolism
Epidemiology
1. Incidence: 1:15,000
2. Autosomal recessive inheritance
3. Most common in northwestern european descendents
  1. Due to homozygous A985G missense mutation (see below)
Pathophysiology
1. Defect in fatty acid oxidation
2. A985G Missense mutation is most common cause
Signs
1. Progressive nonketotic Hypoglycemia
2. Lethargy to coma
3. Seizures
4. Encephalopathy
Labs
1. Urine organic acids
2. Acylcarnitine
3. Genetic testing
Management
1. Frequent meals (cornstarch) to avoid Hypoglycemia
2. Careful management when ill, Vomiting
3. Medic alert tag to notify responders in emergency
Complications
1. Sudden Infant Death Syndrome

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This page was written by Scott Moses, MD. This page was last revised before 5/10/08, prior to consistent tracking of revision date. This page was last published on 5/10/2008. Please send comments and questions to the editor. Contact information may be found on the page About the Family Practice Notebook. These pages are best viewed with Microsoft Internet Explorer 6.0.