Familial Lecithin: Cholesterol Acyltransferase Deficiency: Report of a Third Norwegian Family with Two Afflicted Members

Abstract

A brother and sister with familial LCAT deficiency are reported. They live in the same arca as the two previously described Norwegian families. The brother. 55 years of age, had typical signs and symptoms of the disease, including kidney failure, and has undergone kidney transplantation. His 60-year-old sister had always been healthy. Protein uria had never been detected, and her kidney function was normal. She is the only patient with familial LCAT deficiency so far described without detectable renal disease. Ultra-centrifugation and gel filtration on 2% agarose failed to show any large molecular weight low-density lipoprotein (LM-LDL) fraction as has hitherto been described in plasma of all other patients with this disease, including her brother. An association between occurrence of plasma LM-LDL and the kidney lesion in LCAT deficiency may therefore exist. The genetic studies indicate that the disease is caused by a mutation at a locus coding for the production of plasma LCAT. There is good evidence that this locus is closely linked to the %aL-haptaglobin locus on chromosome no. 16.

Key Words:

• Cholesterol metabolism
• chromosome no. 16
• inborn error of metabolism
• lecithin
• cholesterol acyltransferase
• LCAT deficiency