II. 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)
III. Pathophysiology
- Defect in Fatty Acid oxidation
- A985G Missense mutation is most common cause
IV. Signs
- Progressive nonketotic Hypoglycemia
- Lethargy to coma
- Vomiting
- Seizures
- Encephalopathy
- Hepatomegaly
V. Screening
-
Newborn Screening
- Routine Newborn Screening performed at birth usually detects MCADD
VI. Labs
- Hypoglcemia
- Urine organic acids
- Metabolic Acidosis
- Hyperammonemia
- Acylcarnitine
- Genetic Testing
VII. 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
VIII. Complications
- Sudden Infant Death Syndrome
- Developmental Delay
- Motor Delay
- Risk of intellectual Developmental Disability