Lipoprotein lipase deficiency. Apropos of 2 cases
Guyot, A.; Bost, M.; Groslambert, P.; Foulon, T.; Jeannoel, P.
Pediatrie 41(1): 33-39
1986
ISSN/ISBN: 0031-4021 PMID: 3725507 Document Number: 282847
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.