Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency: Case Report
Keywords:
LCHAD, metabolic disorder, non-diabetic hypoglycemia, long chain fatty acids.Abstract
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare metabolic disorder that prevents the body from converting long chain fats to energy. Signs and symptoms of LCHAD deficiency typically appear during infancy or early childhood and can include feeding difficulties, lack of energy, low blood sugar (hypoglycemia), weak muscle tone (hypotonia), liver problems, and abnormalities in retina. Individuals with LCHAD deficiency are at risk for breakdown of muscle tissue in case of hyperthermia, severe physical activity, infectious diseases, fasting. We present a case of acute rhabdomyolysis in 3 years old patient with LCHAD deficiency.
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