Type VII Glycogenosis (Muscle and Erythrocyte Phosphofructokinase Deficiency)

Tarui, Seiichiro; Kôno, Norio; Kuwajima, Masamichi; Ikura, Yuji

doi:10.1159/000401609

Cited by 11 publications

(3 citation statements)

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“…The enhanced haemoglobin-oxygen affinity results in a relative peripheral tissue hypoxia and stimulates erythrocyte production, thereby explaining the marked reticulocytosis despite mild anaemia in PFK-deficient dogs. In fact, human PFK-deficient patients commonly have a compensatory erythrocytosis (Tarui et al 1978;Vora etal. 1983) since they do not suffer from alkaline-induced haemolytic crises.…”

Section: Discussionmentioning

confidence: 99%

Autosomal recessive inherited phosphofructokinase deficiency in English springer spaniel dogs

et al. 1986

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Three families of English springer spaniel dogs with phosphofructokinase (PFK) deficiency causing haemolysis were studied. Four male dogs and one female dog with chronic haemolysis and haemolytic crises were found to have markedly reduced PFK activity in erythrocytes (8-20% of control English springer spaniels). PFK-deficient erythrocytes exhibited an extreme alkaline and sucrose lysis. The oxygen dissociation curve of erythrocyte suspensions was shifted to the left with a 50% saturation of haemoglobin at a partial oxygen pressure of 16-17 mmHg (normal 26-31 mmHg). Muscle wasting and mildly increased serum creatine phosphokinase activity were also noted. Six clinically normal first degree relatives of affected dogs had erythrocyte PFK activities that were 38-51% of controls. In these family members, there was an erythrocytosis and mild reticulocytosis probably due to a mildly enhanced haemoglobin-oxygen affinity but no increase in serum creatine phosphokinase. These studies confirm the familial nature of muscle-type PFK deficiency in English springer spaniels and support the conclusion that this animal model of the human glycogen storage disease type VII is inherited as an autosomal recessive trait.

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Section: Discussionmentioning

confidence: 99%

Autosomal recessive inherited phosphofructokinase deficiency in English springer spaniel dogs

et al. 1986

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“…The consistently decreased concentration of 2,3-DPG was associated with markedly increased hemoglobin-oxygen affinity (Fig. 5), indicating that the high normal hemoglobin in these patients is compensatory in nature (7,11,43).…”

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confidence: 88%

Heterogeneity of the molecular lesions in inherited phosphofructokinase deficiency.

et al. 1983

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A B S T R A C T Human phosphofructokinase (PFK; EC 2.7.1.11) exists in tetrameric isozymic forms. Muscle and liver contain the homotetramers M4 and L4, whereas erythrocytes contain five isozymes composed of M (muscle) and L (liver) subunits, i.e., M4, M3L, M2L2, ML3, and L4. Inherited defects of erythrocyte PFK are usually partial and are described in association with heterogeneous clinical syndromes. To define the molecular basis and pathogenesis of this enzymopathy, we investigated four unrelated individuals manifesting myopathy and hemolysis (glycogenosis type VII), isolated hemolysis, or no symptoms at all.The three symptomatic patients showed high-normal hemoglobin levels, despite hemolysis and early-onset hyperuricemia. They showed total lack of muscle-type PFK and suffered from exertional myopathy of varying severity. In the erythrocytes, a metabolic crossover was evident at the PFK step: the levels of hexose monophosphates were elevated and those of 2,3-diphosphoglycerate (2,3-DPG) were depressed, causing strikingly increased hemoglobin-oxygen affinity. In all cases,

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“…Furthermore, an impairment in erythrocyte-mediated ox ygen supply to tissues and hemolysis due to the associated glycolytic failure within erythrocytes in type VII may also participate to a large extent in hyperuricemia [9], In this patient, a failure in the use of blood glucose in the glyco lytic pathway, shown as a lack of second wind phenome non, might make the hyperuricemia more obvious than the other reported cases with type V glycogenosis.…”

Section: Discussionmentioning

confidence: 71%

Glycogenosis Type V (McArdle’s Disease) with Hyperuricemia

Jinnai

Kôno²,

Yamamoto³

et al. 1993

Eur Neurol

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A 28-year-old male with glycogenosis type V associated with continuous hyperuricemia during mild daily activities is reported. An aerobic exercise test using a bicycle ergometer revealed that purine metabolites, i.e. ammonia, ino-sine, hypoxanthine and xanthine, were transiently increased by the exercise and that a subsequent increment in uric acid continued until the following day. The accelerated purine degradation by the muscle exercise was thus shown to be able to cause the overt hyperuricemia in a patient with glycogenosis type V. Therapeutic use of fructose for glycogenosis was disappointing due to fructose-induced hyperuricemia. A search for myogenic hyperuricemia is essential for therapeutic trials.

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Type VII Glycogenosis (Muscle and Erythrocyte Phosphofructokinase Deficiency)

Cited by 11 publications

References 0 publications

Autosomal recessive inherited phosphofructokinase deficiency in English springer spaniel dogs

Autosomal recessive inherited phosphofructokinase deficiency in English springer spaniel dogs

Heterogeneity of the molecular lesions in inherited phosphofructokinase deficiency.

Glycogenosis Type V (McArdle’s Disease) with Hyperuricemia

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