Familial Plasma Lecithin:Cholesterol Acyltransferase Deficiency
Hamnstrom, B.; Gjone, E.; Norum, K. R.
BMJ 2(5652): 283-286
1969
DOI: 10.1136/bmj.2.5652.283
Accession: 061199631
A WOMAN WITH FAMILIAL PLASMA LECITHIN: cholesterol acyltransferase (L.C.A.T.) deficiency showed, like the other reported cases, obvious corneal opacity, proteinuria, and moderate anaemia with a slight haemolytic component. In the plasma the concentrations of free cholesterol, triglycerides, and lecithin were high, and those of esterified cholesterol, lysolecithin, and alphalipoprotein were low. L.C.A.T. activity in plasma was 10% of normal.
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