pediatrics
Beta Oxidation Cycle Disorders
Long chain 3 hydroxyacyl CoA dehydrogenase deficiency (LCHADD)
This deficiency is the 2nd most common fatty acid oxidation defect. It shares many features of MCADD, but patients may also have cardiomyopathy; rhabdomyolysis, massive creatine kinase elevations, and myoglobinuria with muscle exertion; peripheral neuropathy; and abnormal liver function. Mothers with an LCHADD fetus often have Diagnosis (hemolysis, elevated liver enzymes, and low platelet count) during pregnancy. conjugates in an acylglycine profile. LCHADD can be confirmed by enzyme study in skin fibroblasts or by genetic testing. LCHADD is now included in routine Screening Tests for Newborns in all states in the US. Treatment during acute exacerbations includes hydration, high-dose glucose, bed rest, urine alkalinization, and carnitine supplementation. Long-term treatment includes a high-carbohydrate diet, medium-chain triglyceride supplementation, and avoidance of fasting and strenuous exercise. 