Heterozygote of Lipoprotein Lipase Deficiency Presenting Chylomicronemia Syndrome
نویسندگان
چکیده
منابع مشابه
Lipoprotein Lipase Deficiency in an Infant With Chylomicronemia, Hepatomegaly, and Lipemia Retinalis
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متن کاملDetection and characterization of the heterozygote state for lipoprotein lipase deficiency.
Because there are no characteristic clinical or biochemical manifestations, the heterozygote state for lipoprotein lipase (LPL) deficiency has been difficult to detect. Measurements of postheparin plasma LPL activity and of LPL mass were performed in six families of probands with LPL deficiency to characterize the heterozygote state. LPL mass was measured in a sandwich enzyme-linked immunosorbe...
متن کاملDetection of a new compound heterozygote (del G916/G1401A) for lipoprotein lipase deficiency and a comparative haplotype analysis of the mutant lipoprotein lipase gene from Japanese patients.
A patient with early-onset chylomicronemia from a non-consanguineous family to be a compound heterozygote for two different mutations in the lipoprotein lipase (LPL) gene has been demonstrated. Reports on compound heterozygotes for LPL deficiency have been limited. The patient, a 2-month-old Japanese boy, was admitted to Urayasu Hospital because of hyperlipidemia. He showed eruptive exanthomas ...
متن کاملPhenotypic Expression of Heterozygous Lipoprotein Lipase Deficiency
Familial lipoprotein lipase (LPL) deficiency is a rare genetic disorder accompanied by well-characterized manifestations. The phenotypic expression of heterozygous LPL deficiency has not been so clearly defined. We studied the pedigree of a proband known to be homozygous for a mutation resulting in nonfunctional LPL. Hybridization ofDNA from 126 members with allele-specific probes detected 29 c...
متن کاملFamilial lipoprotein lipase deficiency – neonatal presentation
A baby girl, born by normal spontaneous vaginal delivery with birth weight 3.845kg, was admitted for neonatal jaundice on day 2 of life. Her mother had maternal gestational diabetes on diet control. Her father was newly diagnosed with hyperlipidaemia on health screen and was put on diet control. There was no consanguinity. Her serum bilirubin level on admission was 186mmol/L with normal liver f...
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ژورنال
عنوان ژورنال: The Journal of Japan Atherosclerosis Society
سال: 1990
ISSN: 0386-2682,2185-8284
DOI: 10.5551/jat1973.18.6_671