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MCAD Deficiency
Aka: MCAD Deficiency, Medium-Chain-Acyl-CoA-Dehydrogenase Deficiency, MCADD
- See Also
- Inborn Errors of Metabolism
- Epidemiology
- Incidence: 1:15,000 to 17,000 live births
- Autosomal Recessive inheritance
- Most common in northwestern european descendents
- Due to Homozygous A985G missense mutation (see below)
- Pathophysiology
- Defect in Fatty Acid oxidation
- A985G Missense mutation is most common cause
- Signs
- Progressive nonketotic Hypoglycemia
- Lethargy to coma
- Vomiting
- Seizures
- Encephalopathy
- Hepatomegaly
- Screening
- Newborn Screening
- Routine Newborn Screening performed at birth usually detects MCADD
- Labs
- Hypoglcemia
- Urine organic acids
- Metabolic Acidosis
- Hyperammonemia
- Acylcarnitine
- Genetic Testing
- Management
- Correct Hypoglycemia!
- Avoid Fasting state
- Frequent meals (low fat, high Carbohydrate) to avoid Hypoglycemia
- Avoid medium chain Fatty Acids (e.g. coconut oil)
- Careful management when ill, Vomiting
- Medic alert tag to notify responders in emergency
- Complications
- Sudden Infant Death Syndrome
- Developmental Delay
- Motor Delay
- Risk of intellectual Developmental Disability
- References
- Weismiller (2017) Am Fam Physician 95(11): 703-9 [PubMed]