Disease relevance of Glycogen Storage Disease

• Polymerase-chain-reaction analysis demonstrated donor HLA-DR DNA in the heart of both patients with glycogen storage disease, in the skin of one of them, and in the skin, intestine, blood, and bone marrow of the patient with Gaucher's disease [1].
• "Lysosomal glycogen storage disease with normal acid maltase" which was originally described by Danon et al., is characterized clinically by cardiomyopathy, myopathy and variable mental retardation [2].
• Muscle cultures from three unrelated patients with muscle phosphofructokinase (PFK; EC 2.7.1.11) deficiency (Glycogenosis type VII; Tarui disease) had normal PFK activity and normal morphology [3].
• Hyperuricemia in glycogen storage disease type I. Contributions by hypoglycemia and hyperglucagonemia to increased urate production [4].
• Of the 10 infants with raised hepatic glycogen who had a diagnosis of SIDS, 8 had glucose-6-phosphatase deficiency (type 1a glycogen storage disease), and 2 had transport protein T2 deficiency (type 1c glycogen storage disease) [5].

Psychiatry related information on Glycogen Storage Disease

• Effects in vivo of food deprivation and 3-mercaptopicolinate in the glycogen-storage-disease (gsd/gsd) rat [6].
• Increasing knowledge of the temporal and spatial expression of the glucose-6-phosphatase proteins and their catalytic roles in early human development is essential for the elucidation of the aetiology of renal disease in both type I glycogen storage diseases and the developmental disorders of the glucose-6-phosphatase system [7].

High impact information on Glycogen Storage Disease

• Glucose-6-phosphatase dependent substrate transport in the glycogen storage disease type-1a mouse [8].
• Heritable phosphorylase kinase (Phk) deficiency underlies a group of glycogenoses in humans, mice and rats that differ in mode of inheritance and tissue-specificity [9].
• Liver transplantation for type IV glycogen storage disease (branching-enzyme deficiency) results in the resorption of extrahepatic deposits of amylopectin, but the mechanism of resorption is not known [1].
• These findings indicate that muscular exertion in patients with glycogenosis types III, V, and VII causes excessive increases in blood ammonia, inosine, and hypoxanthine due to accelerated degradation of muscle purine nucleotides [10].
• Hypoxanthine and urate concentrations were extremely high in the plasma and urine of the patient with glycogenosis type VII [10].

Chemical compound and disease context of Glycogen Storage Disease

• Optimal rate of enteral glucose administration in children with glycogen storage disease type I [11].
• Basal lactate concentrations lowered in every patient with glycogen storage disease type V or type VII [12].
• The incremental areas of ammonia in controls and in glycogen storage disease patients strongly correlated with those of hypoxanthine (r = 0.984, n = 11, P less than 0.005) [12].
• A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic [13].
• Five patients with glycogen storage disease type I (GSD-I) were evaluated for a bleeding diathesis and subsequently were given an infusion of 1-deamino-8-D-arginine vasopressin (DDAVP) [14].

Biological context of Glycogen Storage Disease

• Deficiency of glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis, causes glycogen storage disease type Ia (GSD-Ia), an autosomal recessive disorder characterized by growth retardation, hypoglycemia, hepatomegaly, nephromegaly, hyperlipidemia, hyperuricemia, and lactic acidemia [15].
• A conformational model for the human liver microsomal glucose-6-phosphatase system: evidence from rapid kinetics and defects in glycogen storage disease type 1 [16].
• Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene [17].
• This phenotype shares some aspects with X-linked liver glycogenosis subtype 2 (XLG2), a variant of liver Phk deficiency arising from missense mutations in the alpha L subunit gene (PHKA2), but differs from XLG2 in other respects [18].
• A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12-->G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb [19].

Anatomical context of Glycogen Storage Disease

• This study measures hexose monophosphate (HMP) shunt activity, glycolytic rate, and glucose transport in PMN and lymphocytes of patients with glycogen storage disease (GSD) type Ib as compared with controls and with GSD Ia patients [20].
• Apoptotic neutrophils in the circulation of patients with glycogen storage disease type 1b (GSD1b) [21].
• Levels of erythrocyte glycolytic intermediates after the phosphofructokinase (PFK) step, including 2,3-bisphosphoglycerate (2,3-DPG), were decreased at rest in patients from separate families with type VII glycogenosis [22].
• In contrast, immunohistochemistry revealed that IRS-1 was strongly expressed in the majority of foci of altered hepatocytes particularly in approximately 97% of the clear/acidophilic and mixed cell foci showing excessive storage of glycogen (glycogenosis) [23].
• Type 4 vacuoles were unlined by any of the above antigens and were most common in infantile acid maltase deficiency and in the nonlysosomal glycogenoses [24].

Gene context of Glycogen Storage Disease

• Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II [25].
• Deficiency of muscle PFK (PFK-M), glycogenosis type VII (Tarui disease), is an autosomal recessive disorder characterized by an exertional myopathy and hemolytic syndrome [26].
• Since not all cases displayed PRKAG2 mutations, fatal congenital nonlysosomal cardiac glycogenosis seems to be genetically heterogeneous [27].
• Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI [28].
• Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis [29].

Analytical, diagnostic and therapeutic context of Glycogen Storage Disease

• To investigate purine catabolism in exercising muscles of patients with muscle glycogen storage disease, we performed ischemic forearm exercise tests and quantitated metabolites appearing in cubital venous blood [12].
• Muscle as a putative producer of acid alpha-glucosidase for glycogenosis type II gene therapy [30].
• acid alpha-glucosidase (EC 3.2.1.20) was purified from fetal bovine muscle by affinity chromatography on concanavalin A and Sephadex G-100 and added to the culture medium of mature muscle cultures from animals affected by glycogenosis type II [31].
• Hepatocellular carcinoma without cirrhosis has previously been described during immunosuppression, but this is the first report of disseminated focal hepatic glycogenosis after long-term azathioprine therapy [32].
• We compared acid alpha-glucosidase of acid maltase-deficient Japanese quails, an animal model of human late-onset glycogenosis type II, with that of normal controls [33].

References