Glycogen storage disease, types I to XCriteria for morphologic diagnosis

McAdams, A. James; Hug, George; Bove, Kevin E.

doi:10.1016/s0046-8177(74)80024-9

Cited by 103 publications

(39 citation statements)

References 24 publications

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“…These data indicate that other factors are responsible for determining VLDL production rates than metabolic consequences of G6Pase-␣ deficiency alone. It is generally assessed that hepatic fat content correlates with VLDL production (34) and that GSD-1a is associated with hepatic steatosis (35). In this study, the degree of hepatic steatosis was not determined and thus its effect on number or size of the VLDL produced could not be determined.…”

Section: Discussionmentioning

confidence: 86%

Increased de novo Lipogenesis and Delayed Conversion of Large VLDL into Intermediate Density Lipoprotein Particles Contribute to Hyperlipidemia in Glycogen Storage Disease Type 1a

et al. 2008

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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 Ϯ 112 mg/d in controls and 641 Ϯ 201 mg/d in GSD-1a patients (p Ͻ 0.01). Plasma triglyceride-palmitate derived from de novo lipogenesis was 7.1 Ϯ 9.4 and 86.3 Ϯ 42.5 mol/h in controls and patients, respectively (p Ͻ 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 Ϯ 0.5 pools/d) compared with controls (4.3 Ϯ 1.8 pools/d). Fractional catabolic rate of intermediate density lipoproteins was lower in patients (0.8 Ϯ 0.6 pools/d) compared with controls (3.1 Ϯ 1.5 pools/d). Whole body lipolysis was similar, i.e., 4.5 Ϯ 1.9 mol/kg/ min in patients and 3.8 Ϯ 1.9 mol/kg/min in controls. Hyperlipidemia in GSD-1a is associated with strongly increased lipid production and a slower relative conversion of VLDL to LDL. (Pediatr Res 63: 702-707, 2008) G lycogen storage disease type 1a (GSD-1a, von Gierke Disease, OMIM#232200) is caused by deficiency of glucose-6-phosphatase ␣ (G6Pase-␣), which catalyzes the terminal steps in gluconeogenesis and glycogenolysis by converting glucose-6-phosphate to glucose and phosphate. G6Pase-␣ deficiency results in an inability to release glucose from liver, kidney, and possibly intestine. Phenotypical, G6Pase-␣ deficiency is characterized by growth retardation, hypoglycemia, hepatomegaly (massive hepatic steatosis) and lactic acidemia, as well as hypertriglyceridemia and hypercholesterolemia (1). Increased concentrations of cholesterol are found in both very LDL (VLDL) and LDL fractions whereas HDL cholesterol and apolipoprotein A-I concentrations are usually decreased (2,3). To control hypoglycemia in GSD-1a, patients often receive uncooked cornstarch which is accompanied by reductions in plasma lipid levels in GSD-1a (4,5). The underlying mechanisms responsible for disturbed lipid metabolism in GSD-1a are largely unknown. We have previously reported increased rates of hepatic de novo lipogenesis and cholesterogenesis in two patients with GSD-1a (6), which may drive VLDL production by the liver. Lipogenesis and cholesterogenesis have both been implicated in regulation of VLDL secretion (7-9). In addition, insulin is known to suppress hepatic VLDL production (10): prevailing low insulin concentrations in GSD-1a patients may contribute to increased VLDL production in these subjects, but quantitative data are not available. Furthermore, defective lipoprotein lipolysis might also contribute to hy...

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Section: Discussionmentioning

confidence: 86%

Increased de novo Lipogenesis and Delayed Conversion of Large VLDL into Intermediate Density Lipoprotein Particles Contribute to Hyperlipidemia in Glycogen Storage Disease Type 1a

et al. 2008

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“…Lipid vacuoles are large and numerous. 77 By contrast, in most patients with GSD III, the liver biopsy demonstrates a vacuolar accumulation of non-membrane bound glycogen primarily located in the cytoplasm. Lipid vacuoles are far less numerous in GSD III than in GSD I.…”

Section: Acmg Standards and Guidelinesmentioning

confidence: 96%

“…Histopathological findings of the liver in GSD I include distention of the liver cells by glycogen and fat and the finding that glycogen is uniformly distributed. 77 The amount of glycogen accumulation may be normal or only modestly increased. Lipid vacuoles are large and numerous.…”

Section: Acmg Standards and Guidelinesmentioning

confidence: 99%

“…The presence of fibrosis, ranging from minimal periportal fibrosis to micronodular cirrhosis, occurs in GSD III, GSD VI, and GSD IX but not in GSD I. 18,77,78 Periportal fibrosis is a very early finding in GSD III. In both GSD I and GSD III, the stored material is within the cytoplasm, periodic acid schiff positive, and diastase sensitive.…”

Section: Acmg Standards and Guidelinesmentioning

confidence: 99%

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Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

Kishnani

Austin

Abdenur

et al. 2014

Genetics in Medicine

373

554

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“…The notable distinctions from type I glycogenosis are the presence of fibrous septa formation and the paucity of fat. 5 GDE is an unusual protein because of its two independent catalytic activities; 1,4-alpha-d-glucan 4-alpha-d-glycosyltransferase and AGD, with separate active sites on a single polypeptide. 6 GSD IIIa and IIIb are allelic disorders.…”

Section: Discussionmentioning

confidence: 99%

Glycogen Storage Disease Type III-Coris Disease: A Case Report and Review Literature

Anwar

Rahaman

Matin

et al. 2017

Bangladesh J Child Health

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Glycogen storage disease, types I to XCriteria for morphologic diagnosis

Cited by 103 publications

References 24 publications

Increased de novo Lipogenesis and Delayed Conversion of Large VLDL into Intermediate Density Lipoprotein Particles Contribute to Hyperlipidemia in Glycogen Storage Disease Type 1a

Increased de novo Lipogenesis and Delayed Conversion of Large VLDL into Intermediate Density Lipoprotein Particles Contribute to Hyperlipidemia in Glycogen Storage Disease Type 1a

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

Glycogen Storage Disease Type III-Coris Disease: A Case Report and Review Literature

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Glycogen storage disease, types I to XCriteria for morphologic diagnosis

Cited by 103 publications

References 24 publications

Increased de novo Lipogenesis and Delayed Conversion of Large VLDL into Intermediate Density Lipoprotein Particles Contribute to Hyperlipidemia in Glycogen Storage Disease Type 1a

Increased de novo Lipogenesis and Delayed Conversion of Large VLDL into Intermediate Density Lipoprotein Particles Contribute to Hyperlipidemia in Glycogen Storage Disease Type 1a

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

Glycogen Storage Disease Type III-Coris Disease: A Case Report and Review Literature

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Glycogen Storage Disease Type III-Coris Disease: A Case Report and Review Literature