A case of Hypertriglyceridemia (? Transient Infantile Hypertriglyceridemia) with associated Hyperglycinemia and Carnitine deficiency.

Abstract

Hypertriglyceridemia is an emerging risk factor for atherosclerosis, coronary heart disease and pancreatitis in the developing countries like India. It can be familial or acquired. Hypertriglyceridemia associated with hyperglycinemia and carnitine deficiency is rarely seen. We report a case of 3 months old infant with low birth weight admitted for failure to thrive and lower respiratory tract infection. He was screened for hypertriglyceridemia and inborn error of metabolism. Serum was lipemic with triglyceride level-1236 mg%, Cholesterol-220 mg%, Amino acid Glycine(789 umol/L) was elevated, Fatty acids like Acetylcarnitine( 4.16 umol/L), Octadecanoyl carnitine(0.16 umol/L) were found to be decreased. There is no family history of hyperlipidemia or consanguineous marriage. History, clinical examination and blood reports points towards transient infantile hypertriglyceridemia. Reasons for high glycine level and carnitine deficiency could not be established. Further investigations like mass spectrometry and mutational screening for genetic defects are necessary for confirmatory diagnosis. Meanwhile the infant was treated with lipid lowering agents, medium chain fatty acids and carnitine supplements.