Abstract
AbstractA child was born at term from an uncomplicated pregnancy. Biochemical and hematological tests were unremarkable. The Guthrie test was performed, which involves taking a blood sample on a filter paper to screen for serious diseases. These diseases must be treated early in the patient’s life to avoid complication. Newborn screening revealed a deficiency in MCAD (Medium Chain Acyl-CoA Dehydrogenase). This is an inherited metabolic disease that leads to the accumulation of medium-chain fatty acids due to a defect in mitochondrial beta-oxidation. During catabolic situations, this condition can cause hypocetotic hypoglycemia and symptoms that can range from malaise to coma or even death.
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