[Lipoprotein lipase deficiency. Apropos of 2 cases].
Lipoprotein-lipase deficiency is an uncommon disease, inherited as an autosomal recessive pattern. The authors report two cases: the first one is a fourteen years old girl. It is revealed by abdominal pain; the diagnosis is detected by a milky plasma and confirmed by the enzyme activity which is dramatically decreased; the other one is a seven year old boy, who shows several pancreatitis but in whom the enzyme activity is not so low, perhaps because of genotypical difference.
D000208:Acute Disease; D000293:Adolescent; D002648:Child; D005260:Female; D006801:Humans; D008072:Hyperlipoproteinemia Type I / Q000150:complications / Q000175:diagnosis*; D006951:Hyperlipoproteinemias / Q000175:diagnosis*; D010195:Pancreatitis / Q000201:enzymology; D013997:Time Factors
Déficit en lipoprotéine lipase. A propos de deux observations.