Increased de novo lipogenesis and delayed conversion of large VLDL into intermediate density lipoprotein particles contribute to Hyperlipidemia in glycogen storage disease type 1a
| Autor: | Robert H. J. Bandsma, G. Peter A. Smit, Berthil H.C.M.T. Prinsen, Folkert Kuipers, J. P. Rake, Dirk-Jan Reijngoud, Theo Boer, Monique G. de Sain–Van der Velden |
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| Přispěvatelé: | Center for Liver, Digestive and Metabolic Diseases (CLDM) |
| Jazyk: | angličtina |
| Rok vydání: | 2008 |
| Předmět: |
Adult
Glycerol Male medicine.medical_specialty Very low-density lipoprotein FATTY-ACID COMPOSITION Hyperlipidemias Biology Acetates Glycogen Storage Disease Type I Lipoproteins VLDL APOLIPOPROTEIN B-100 LIVER-DISEASE Internal medicine Hyperlipidemia medicine Lipolysis Glycogen storage disease Humans Infusions Parenteral Particle Size Intermediate-density lipoprotein PLASMA Lipogenesis Metabolic disorder nutritional and metabolic diseases Valine MASS-SPECTROMETRY medicine.disease ENZYME GENES Kinetics Endocrinology Cholesterol ELEMENT-BINDING PROTEIN-1 Lipoproteins IDL Case-Control Studies HEPATIC SECRETION Pediatrics Perinatology and Child Health CHOLESTEROL-SYNTHESIS Female Steatosis B-CONTAINING LIPOPROTEINS |
| Zdroj: | Pediatric Research, 63(6), 702-707. Nature Publishing Group University of Groningen |
| ISSN: | 0031-3998 |
| Popis: | Glycogen storage disease type 1a (GSD-1a) is a metabolic disorder characterized by fasting-induced hypoglycemia, hepatic steatosis, and hyperlipidemia. The mechanisms underlying the lipid abnormalities are largely unknown. To investigate these mechanisms seven GSD-1a patients and four healthy control subjects received an infusion of [1-(13)C]acetate to quantify cholesterogenesis and lipogenesis. In a subset of patients, [1-(13)C]valine was given to assess lipoprotein metabolism and [2-(13)C]glycerol to determine whole body lipolysis. Cholesterogenesis was 274 +/- 112 mg/d in controls and 641 +/- 201 mg/d in GSD-1a patients (p < 0.01). Plasma triglyceride-palmitate derived from de novo lipogenesis was 7.1 +/- 9.4 and 86.3 +/- 42.5 micromol/h in controls and patients, respectively (p < 0.01). Production of VLDL did not show a consistent difference between the groups, but conversion of VLDL into intermediate density lipoproteins was relatively retarded in all patients (0.6 +/- 0.5 pools/d) compared with controls (4.3 +/- 1.8 pools/d). Fractional catabolic rate of intermediate density lipoproteins was lower in patients (0.8 +/- 0.6 pools/d) compared with controls (3.1 +/- 1.5 pools/d). Whole body lipolysis was similar, i.e., 4.5 +/- 1.9 micromol/kg/min in patients and 3.8 +/- 1.9 micromol/kg/min in controls. Hyperlipidemia in GSD-1a is associated with strongly increased lipid production and a slower relative conversion of VLDL to LDL. |
| Databáze: | OpenAIRE |
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