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Review
. 2007 Jul;26(1):35-41.

Muscle glycogenoses: an overview

S Di Mauro  1
Affiliations
Review

Muscle glycogenoses: an overview

S Di Mauro. Acta Myol. 2007 Jul.
No abstract available

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Figures

Figure 1
Figure 1
elected metabolic pathways in a schematic rendition of a mitochondrion. The spirals indicate the sequential reactions of the β-oxidation pathway, resulting in the liberation of acetyl-coenzyme A (CoA) and the reduction of flavoprotein. Abbreviations: ADP, adenosine diphosphate; ATP, adenosine triphosphate; CACT, carnitine acyl-carnitine translocase; CoQ, coenzyme Q; CPT, carnitine palmitoyltransferase; DIC, dicarboxylate carrier; ETF, electron-transfer flavoprotein; ETFDH, electron-transfer flavoprotein dehydrogenase; FAD, flavin adenine dinucleotide; FADH2, reduced FAD; PDHC, pyruvate dehydrogenase complex; TCA, tricarboxylic acid; I, complex I; II, complex II; III, complex III; IV, complex IV; V, complex V.
Figure 2
Figure 2
The two major syndromes associated with defects of muscle substrate utilization.
Figure 3
Figure 3
Scheme of muscle glycogen metabolism and glycolysis designating the glycogen storage diseases (GSD) affecting muscle with Roman numerals. Numerals in italics indicate GSD causing exercise intolerance, cramps and myoglobinuria. Numerals in plain text indicate GSD causing fixed weakness. The numerals denote defects in the following enzymes: II, acid maltase; III, debrancher; IV, brancher; V, myophosphorylase; VII, phosphofructokinase (PFK); VIII, phosphorylase b kinase (PHK); IX, phosphoglycerate kinase (PGK); X, phosphoglycerate mutase (PGAM); XI, lactate dehydrogenase (LDH); XII, aldolase A; XIII, β-enolase. Abbreviations: c-AMP, cyclic adenosine monophosphate; ADP, adenosine diphosphate; ATP, adenosine triphosphate; PLD, phosphorylase-limit dextrin; UDPG, uridine-diphosphate glucose.
Figure 4
Figure 4
Comparative lactate production through anaerobic glycolysis in vitro by muscle homogenates from normal controls, 3 patients with debrancher deficiency (P1, P2, P3) and one patient with McArdle disease.
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References

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