Glycogen Storage Diseases

Hers, Henri‐Géry; Barsy, Thierry de; Lederer, B; Hue, Louis; Hoof, F. Van

doi:10.1042/bst0021051

Cited by 19 publications

(19 citation statements)

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“…The usual clinical consequence is fatal cirrhosis within 1 or 2 yr after birth_ However, patients who do not die from liver disease are subject to lethal cardiomyopathy or neuromuscular syndromes (52)(53)(54)(55). Because the enzyme deficiency and consequent amylopectin deposition affect all cells, not just those in the liver, it was surprising to many experts in metabolism when absorption occurred of the amylopectin from the heart and other extrahepatic tissues of five patients with GSD IV 1.3 to 6 yr after liver replacement (Fig_ 10) (56).…”

Section: Direct Evidence Of Systemic Chimerism From Thementioning

confidence: 99%

Cell migration and chimerism after whole-organ transplantation: The basis of graft acceptance

1993

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Section: Direct Evidence Of Systemic Chimerism From Thementioning

confidence: 99%

Cell migration and chimerism after whole-organ transplantation: The basis of graft acceptance

1993

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“…Deficiency of microsomal G6Pase causes glycogen storage disease (GSD) type la (von Gierke disease), an autosomal recessive disorder. 1 in 100,000-300,000 people are affected with this genetic disease (3,4), which manifests during the first year of life with severe hypoglycemia and hepatomegaly. Individuals with GSD type la, first described in 1952 by Cori and Cori (5), also exhibit a wide range ofclinical symptoms and biochemical abnormalities, including short stature, lactic acidemia, hyperlipidemia, hyperuricemia, tendency to bleed, neutropenia, hepatic adenomas, and renal dysfunction (3,4).…”

Section: Introductionmentioning

confidence: 99%

“…1 in 100,000-300,000 people are affected with this genetic disease (3,4), which manifests during the first year of life with severe hypoglycemia and hepatomegaly. Individuals with GSD type la, first described in 1952 by Cori and Cori (5), also exhibit a wide range ofclinical symptoms and biochemical abnormalities, including short stature, lactic acidemia, hyperlipidemia, hyperuricemia, tendency to bleed, neutropenia, hepatic adenomas, and renal dysfunction (3,4). The present treatments for GSD type la focus on relieving symptomatic hypoglycemia by frequent ingestion of glucose by mouth or continuous nighttime feeding by a nasogastric tube.…”

Section: Introductionmentioning

confidence: 99%

Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.

Lei

Pan²,

Shelly³

et al. 1994

J. Clin. Invest.

115

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Glycogen storage disease (GSD) type la is an autosomal recessive inborn error of metabolism caused by a deficiency in microsomal glucose-6-phosphatase (G6Pase), the key enzyme in glucose homeostasis. Southern blot hybridization analysis using a panel of human-hamster hybrids showed that human G6Pase is a single-copy gene located on chromosome 17. To correlate specific defects with clinical manifestations of this disorder, we identified mutations in the G6Pase gene of GSD type la patients. In the G6Pase gene of a compound heterozygous patient (LLP), two mutations in exon 2 of one allele and exon 5 of the other allele were identified. The exon 2 mutation converts an arginine at codon 83 to a cysteine (R83C). This mutation, previously identified by us in another GSD type la patient, was shown to have no detectable phosphohydrolase activity. The exon 5 mutation in the G6Pase gene of LLP converts a glutamine codon at 347 to a stop (Q347SP). This Q347SP mutation was also detected in all exon 5 subclones (five for each patient) of two homozygous patients, KB and CB, siblings of the same parents. The predicted Q347SP mutant G6Pase is a truncated protein of 346 amino acids, 11 amino acids shorter than the wild type G6Pase of 357 residues. Site-directed mutagenesis and transient expression assays demonstrated that G6Pase-Q347SP was devoid of G6Pase activity. G6Pase is an endoplasmic reticulum (ER) membrane-associated protein containing an ER retention signal, two lysines (KK), located at residues 354 and 355. We showed that the G6Pase-K3SSSP mutant containing a lysine-355 to stop codon mutation is enzymatically active. Our data demonstrate that the ER protein retention signal in human G6Pase is not essential for activity. However, residues 347-354 may be required for optimal G6Pase catalysis. (J. Clin. Invest. 1994. 93:1994-1999 Key words: inborn error of metabolism -genetic mutation * endoplasmic reticulum and/or retention signal

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“…Glycogen storage disease (GSD)' type 1 is an inborn error of metabolism caused by the deficiency of glucose-6-phosphatase (G6Pase), the key enzyme in the homeostatic regulation of five subgroups, la, 1aSP, lb, ic, and Id based upon observed biochemical and clinical heterogeneities (1,2,(5)(6)(7)(8)(9). GSD type LaSP is clinically indistinguishable from type la and was proposed to be caused by a defect in a 21-kD stabilizing protein, SP, purified on the basis of its ability to stabilize the G6Pase catalytic unit in vitro (5,10).…”

Section: Introductionmentioning

confidence: 99%

Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c.

Lei¹,

Shelly²,

Lin³

et al. 1995

J. Clin. Invest.

109

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Glycogen storage disease (GSD) type 1, which is caused by the deficiency of glucose-6-phosphatase (G6Pase), is an autosomal recessive disease with heterogenous symptoms. Two models of G6Pase catalysis have been proposed to explain the observed heterogeneities. The translocase-catalytic unit model proposes that five GSD type 1 subgroups exist which correspond to defects in the G6Pase catalytic unit (la), a stabilizing protein (laSP), the glucose-6-P (lb), phosphate/ pyrophosphate (ic), and glucose (id) translocases. Con

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Glycogen Storage Diseases

Cited by 19 publications

References 0 publications

Cell migration and chimerism after whole-organ transplantation: The basis of graft acceptance

Cell migration and chimerism after whole-organ transplantation: The basis of graft acceptance

Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.

Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c.

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