En autosomalt recessiv störning i lipoproteinmetabolismen som orsakas av en mutation hos lecitinacyltransferas-genen. Den kännetecknas av låga HDL-kolesterolnivåer samt kombinationen hornhinnegrumling, hemolytisk anemi och äggvita i urinen med nedsatt njurfunktion.
An autosomal recessive disorder of lipoprotein metabolism caused by mutation of LECITHIN CHOLESTEROL ACYLTRANSFERASE gene. It is characterized by low HDL-cholesterol levels, and the triad of CORNEAL OPACITIES; HEMOLYTIC ANEMIA; and PROTEINURIA with renal failure.
Alfa LCAT-brist
Lecithin:Cholesterol Acyltransferase Deficiency — Acyltransferase Deficiency, Lecithin:Cholesterol — alpha-Lecithin-Cholesterol Acyltransferase Deficiency — Norum Disease — LCATA Deficiency — LCATA Deficiencies — alpha-Lecithin:Cholesterol Acyltransferase Deficiency — LCAT Deficiency — Deficiency, LCAT — alpha-LCAT Deficiency — Deficiency, alpha-LCAT — alpha LCAT Deficiency — Fish-Eye Disease — Fish Eye Disease — Dyslipoproteinemic Corneal Dystrophy — Corneal Dystrophy, Dyslipoproteinemic