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 dra...

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Bibliographic Details
Published inPédiatrie (Paris ) Vol. 41; no. 1; p. 33
Main Authors Guyot, A, Bost, M, Groslambert, P, Foulon, T, Jeannoel, P
Format Journal Article
LanguageFrench
Published France 01.01.1986
Subjects
Acute Disease
Adolescent
Child
Female
Humans
Hyperlipoproteinemia Type I - complications
Hyperlipoproteinemia Type I - diagnosis
Hyperlipoproteinemias - diagnosis
Pancreatitis - enzymology
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Summary: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.
ISSN:0031-4021