A Rare case of neonatal Carnitine palmitoyltransferase II deficiency at Tertiary care centre
Keywords:
Carnitine palmitoyltransferase - II, neonate, hypoglycemiaAbstract
Carnitine Palmitoyltransferase-II (CPT-II) deficiency is a disorder of mitochondrial fatty acid oxidation. Carnitine palmitoyltansferase -II deficiency can be detected by tandem mass spectrometry. Clinical manifestations characteristically involve hepatic, skeletal and cardiac muscle. The most common presentation is acute episode of life threatening coma, hepatic encephalopathy and hypoglycemia induced by a period of fasting resulting from defective hepatic ketogenesis. Treatment is to ensure frequent feeding to prevent hypoglycemia and carnitine supplementation.
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References
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