A neonatal case of apolipoprotein C-II deficiency. 1989

M Ohno, and S Ishibashi, and K Nakao, and T Nozue, and K Nonomura, and N Yamada, and H Aburatani, and H Shimano, and T Murase
Department of Paediatrics, Tachikawa National Hospital, Tokyo, Japan.

A neonatal case of apo C-II deficiency with hypertriglyceridaemia and xanthomas is presented. The patient responded well to a special diet formula containing medium-chain triglycerides (MCT). This is the first case of apo C-II deficiency to be discovered during the neonatal period.

UI MeSH Term Description Entries
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008297 Male Males
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001056 Apolipoproteins C A group of apolipoproteins that can readily exchange among the various classes of lipoproteins (HDL; VLDL; CHYLOMICRONS). After lipolysis of TRIGLYCERIDES on VLDL and chylomicrons, Apo-C proteins are normally transferred to HDL. The subtypes can modulate remnant binding to receptors, LECITHIN CHOLESTEROL ACYLTRANSFERASE, or LIPOPROTEIN LIPASE. Apo-C,Apo C,ApoC,Apoprotein (C),Apoproteins C
D014280 Triglycerides An ester formed from GLYCEROL and three fatty acid groups. Triacylglycerol,Triacylglycerols,Triglyceride
D014972 Xanthogranuloma, Juvenile Benign disorder of infants and children caused by proliferation of HISTIOCYTES, macrophages found in tissues. These histiocytes, usually lipid-laden non-Langerhans cells, form multiple yellow-red nodules most often in the skin, the eye, and sometimes in the viscera. Patients appear to have normal lipid metabolism and are classified as a normolipemic non-Langerhans cell histiocytosis. Nevoxanthoendothelioma,Xanthoma, Juvenile,Juvenile Xanthogranuloma,Juvenile Xanthogranulomas,Juvenile Xanthoma,Juvenile Xanthomas,Nevoxanthoendotheliomas,Xanthogranulomas, Juvenile,Xanthomas, Juvenile
D015228 Hypertriglyceridemia A condition of elevated levels of TRIGLYCERIDES in the blood. Hypertriglyceridemias
D030342 Genetic Diseases, Inborn Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. Hereditary Diseases,Genetic Diseases,Genetic Disorders,Hereditary Disease,Inborn Genetic Diseases,Single-Gene Defects,Defect, Single-Gene,Defects, Single-Gene,Disease, Genetic,Disease, Hereditary,Disease, Inborn Genetic,Diseases, Genetic,Diseases, Hereditary,Diseases, Inborn Genetic,Disorder, Genetic,Disorders, Genetic,Genetic Disease,Genetic Disease, Inborn,Genetic Disorder,Inborn Genetic Disease,Single Gene Defects,Single-Gene Defect

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