Familial lecithin: cholesterol acyltransferase deficiency complicated with unconjugated hyperbilirubinemia and peripheral neuropathy. The first reported cases in the Far East.
Three Japanese patients with lecithin: cholesterol acyltransferase (LCAT) deficiency, the offspring of a consanguineous marriage, are described. In addition to the characteristic clinical and laboratory findings of the disease, our patients had hitherto unreported manifestations, namely unconjugated hyperbilirubinemia, peripheral neuropathy and marked hypocholesterolemia. Although the mechanism of the unconjugated hyperbilirubinemia is not clear, the role of impaired hepatic bilirubin uridine-diphosphate-glucuronyl transferase activity combined with another unknown factor(s) was postulated. Non-random assortment was observed between LCAT deficiency and haptoglobin types, as previously reported. The discovery of Japanese patients with LCAT deficiency indicates that the distribution of this hereditary metabolic disorder is not confined to the Western hemisphere.
D000328:Adult; D001774:Blood Chemical Analysis; D001853:Bone Marrow / Q000473:pathology; D003241:Consanguinity; D003318:Corneal Opacity / Q000150:complications / Q000235:genetics; D005260:Female; D006801:Humans; D006932:Hyperbilirubinemia / Q000150:complications* / Q000235:genetics; D007009:Hypolipoproteinemias / Q000235:genetics*; D007564:Japan; D007668:Kidney / Q000473:pathology; D007863:Lecithin Cholesterol Acyltransferase Deficiency / Q000150:complications / Q000235:genetics*; D008055:Lipids / Q000097:blood; D008099:Liver / Q000473:pathology; D008297:Male; D010375:Pedigree; D010523:Peripheral Nervous System Diseases / Q000150:complications* / Q000235:genetics
D008055:Lipids