Diagnosis of generalized glycogen storage disease (Pompe's disease)

Huijing, F.; Creveld, S. Van; Losekoot, G

doi:10.1016/s0022-3476(63)80230-9

Cited by 49 publications

(14 citation statements)

References 4 publications

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“…In the following types of glycogenosis the leukocytes show decreased activity of the specific enzyme which characterizes the disease as a particular inborn error of metabolism: (a) glycogenosis type II, glucoamylase (EC 3.2.1.3) [40,41]; (b) glycogenosis type III, dextrin-1.6-glucosidase (EC 3.2.1.33) [41][42][43][44] ; (c) glycogenosis type IV, amylo-(1.4-*-1.6) transglycosylase (a-glucan-branching, glycosyltransferase, EC 2.4.1.18) deficiency [45], and (d) glycogenosis type VI, hepatic phosphorylase (EC 2.4.1.1) deficiency [38,41,43,46,47].…”

Section: Glycogen Storage Disease (Glycogenosis)mentioning

confidence: 99%

Carbohydrate Metabolism by Leukocytes

Stjernholm¹,

Burns²,

Hohnadel³

1972

Enzyme

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Section: Glycogen Storage Disease (Glycogenosis)mentioning

confidence: 99%

Carbohydrate Metabolism by Leukocytes

Stjernholm¹,

Burns²,

Hohnadel³

1972

Enzyme

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“…Leukocytes have, of course, been used to confirm the diagnosis of a number of inherited metabolic disorders. Amongst these are maple syrup urine disease, in which the branched chain amino acid oxidative decarboxylase including that in leukocytes is deficient [27], and generalized glycogen storage disease (Pompe's disease) [46], in which the a-glucosidase (EC 3.2.1.20) of many tissues including leukocytes is absent.…”

Section: Krebs Cyclementioning

confidence: 99%

Leukocyte Mitochondria: Function and Biogenesis

Kirschner

Getz

Evans³

1972

Enzyme

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An understanding of mitochondrial pathways in leukocyte metabolism has been hindered by contradictory experimental data and the failure to recognize the heterogeneous nature of most leukocyte populations. There is strong evidence, however, for normal Kreb’s cycle activity and oxidative phosphorylation in leukocyte mitochondria. Other mitochondria-linked pathways are also of importance in leukocyte respiration. The limited evidence presently available indicates that the intra-mitochondrial genetic apparatus in normal and leukemic leukocytes is similar to that of other animal cells.

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“…I n order, however, to avoid the discomfort and the potential hazard of biopsies, several authors have developed methods which allow to measure phosphorylase [13,14], amylo-l,6-glucosidase [15,16] and acid maltase [17,18] in circulating leucocytes. The isolation of these cells is best performed on fresh blood samples and we have found it difficult to realize this on blood samples obtained from patients who are geographically removed, as is usual for most cases studied in this laboratory.…”

Section: Resultsmentioning

confidence: 99%

Amylo-1,6-Glucosidase Activity and Glycogen Content of the Erythrocytes of Normal Subjects, Patients with Glycogen Storage Disease and Heterozygotes

Hoof

1967

Eur J Biochem

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The glycogen content and the activity of amylo‐1,6‐glucosidase (measured by the incorporation of [14C] glucose into glycogen) were determined in the erythrocytes of normal subjects, of patients with type I or VI glycogenosis, of patients belonging to the various subgroups of type III glycogenosis and their parents. Normal results were obtained in type I and VI glycogen storage disease. The glycogen content was elevated in the erythrocytes of all patients with type III disease and reached an intermediary value in the red cells of the heterozygotes. No significant difference was observed between the subgroups of the disease. Amylo‐1,6‐glucosidase was nearly inactive in the erythrocytes of all patients of group III except for two of them belonging to the group IIID. The mean enzymic activity of the erythrocytes of the parents was intermediary between the normal value and that of their affected children. The biochemical analysis of erythrocytes, as an analytical tool in the diagnosis of glycogen storage disease and in the recognition of the heterozygotes for type III glycogenosis, is discussed.

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Diagnosis of generalized glycogen storage disease (Pompe's disease)

Cited by 49 publications

References 4 publications

Carbohydrate Metabolism by Leukocytes

Carbohydrate Metabolism by Leukocytes

Leukocyte Mitochondria: Function and Biogenesis

Amylo-1,6-Glucosidase Activity and Glycogen Content of the Erythrocytes of Normal Subjects, Patients with Glycogen Storage Disease and Heterozygotes

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