Über hepatosplenomegale Lipoidose mit xanthomatösen Veränderungen in Haut und Schleimhaut

Burger, Max M.; Grütz, O.

doi:10.1007/bf02071264

Cited by 116 publications

(10 citation statements)

References 7 publications

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“…Familial LPL deficiency is a rare monogenic disorder that exhibits the severest hyperchylomicronemia. It was first docu-mented in 1932 in a boy born to a family with a history of consanguineous marriage 10) , and the underlying abnormality was demonstrated to be a congenital defect of LPL activity, the rate-limiting enzyme of chylomicron hydrolysis, by Havel et al in 1960 11) . Following the classification of familial hypercholesterolemia, it has been proposed to classify this disease as a class defect causing complete loss of LPL protein, a class defect characterized by the production of catalytically inactive protein, and a class defect characterized by the production of inactive protein lacking affinity to heparan sulfate 12) .…”

Section: A) Familial Lipoprotein Lipase (Lpl) Deficiency A) Concept Amentioning

confidence: 99%

Diagnosis and Management of Type I and Type V Hyperlipoproteinemia

Gotoda

Shirai

Ohta

et al. 2012

JAT

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Both type and type hyperlipoproteinemia are characterized by severe hypertriglyceridemia due to an increase in chylomicrons. Type hyperlipoproteinemia is caused by a decisive abnormality of the lipoprotein lipase (LPL)-apolipoprotein C-system, whereas the cause of type hyperlipoproteinemia is more complicated and more closely related to acquired environmental factors. Since the relationship of hypertriglyceridemia with atherosclerosis is not as clear as that of hypercholesterolemia, and since type and hyperlipoproteinemia are relatively rare, few guidelines for their diagnosis and treatment have been established; however, type and hyperlipoproteinemia are clinically important as underlying disorders of acute pancreatitis, and appropriate management is necessary to prevent or treat such complications. Against such a background, here we propose guidelines primarily concerning the diagnosis and management of type and hyperlipoproteinemia in Japanese.

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Section: A) Familial Lipoprotein Lipase (Lpl) Deficiency A) Concept Amentioning

confidence: 99%

Diagnosis and Management of Type I and Type V Hyperlipoproteinemia

Gotoda

Shirai

Ohta

et al. 2012

JAT

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“…This disorder was first described in 1932 in a young male with xanthomata and hepatosplenomegaly (1). In 1960 Havel and Gordon (2) demonstrated defective clearance of triacylglycerol-rich lipoproteins in this disorder related to diminished lipolytic activity in plasma after intravenous administration of heparin.…”

mentioning

confidence: 99%

A major insertion accounts for a significant proportion of mutations underlying human lipoprotein lipase deficiency.

Langlois

Deeb

Brunzell

et al. 1989

Proc. Natl. Acad. Sci. U.S.A.

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Lipoprotein lipase (LPL; triacylglyceroprotein acylhydrolase, EC 3.1.1.34) is an important enzyme involved in triacylglycerol metabolism. Primary LPL deficiency is a genetic disorder that is usually manifested by a severe elevation in triacylglycerol levels. We have used a recently isolated LPL cDNA clone to study 15 probands from 11 families with this inherited disorder. Surprisingly, 7 of the probands from 4 families, of different ancestries, had a similar insertion in their LPL gene. In contrast to other human genetic disorders, where insertions are rare causes of mutation, this insertion accounts for a significant proportion of the alleles causing LPL deficiency. Detailed restriction mapping of the insertion revealed that it was unlikely to be a duplication-of neighboring DNA and that it was not similar to the consensus sequence of human Li repetitive elements. This suggests that there must be other mechanisms of insertional mutagenesis in human genetic disease besides transposition of mobile Li repetitive elements.

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“…A patient with a familial form ofchylomicronemia was first described in 1932 (2) and LPL deficiency was noted as a cause of familial chylomicronemia in 1960 (3). Familial LPL deficiency is inherited as an autosomal recessive trait and its occurrence has been estimated to be approximately one in a million.…”

mentioning

confidence: 99%

Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency.

Gotoda

Yamada²,

Kawamura³

et al. 1991

J. Clin. Invest.

113

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The DNA sequences were determined for the lipoprotein lipase (LPL) gene from five unrelated Japanese patients with familial LPL deficiency. The results demonstrated that all five patients are homozygotes for distinct point mutations dispersed throughout the LPL gene. Patient 1 has a G-to-A transition at the first nucleotide of intron 2, which abolishes normal splicing.Patient 2 has a nonsense mutation in exon 3 (Tyr" -> Stop) and patient 3 in exon 8 (Trp"2 --Stop). The latter mutation emphasizes the importance of the carboxy-terminal portion of the enzyme in the expression of LPL activity. Missense mutations were identified in patient 4 (Asp2'-Glu) and patient 5 (Arg'3 His) in the strictly conserved amino acids. Expression study of both mutant genes in COS-1 cells produced inactive enzymes, establishing the functional significance of the two missense mutations. In these patients, postheparin plasma LPL mass was either virtually absent (patients 1 and 2) or significantly decreased (patients 3-5). To detect these mutations more easily, we developed a rapid diagnostic test for each mutation. We also determined the DNA haplotypes for patients and confirmed the occurrence of multiple mutations on the chromosomes with an identical haplotype. These results demonstrate that familial LPL deficiency is a heterogeneous genetic disease caused by a wide variety of gene mutations. (J. Clin. Invest.

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Über hepatosplenomegale Lipoidose mit xanthomatösen Veränderungen in Haut und Schleimhaut

Cited by 116 publications

References 7 publications

Diagnosis and Management of Type I and Type V Hyperlipoproteinemia

Diagnosis and Management of Type I and Type V Hyperlipoproteinemia

A major insertion accounts for a significant proportion of mutations underlying human lipoprotein lipase deficiency.

Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency.

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