Myopathies due to enzyme deficiencies

F. Cornelio, S. DiDonato

Research output: Contribution to journalArticle

Abstract

After the discovery in 1959 of myophosphorylase deficiency, at least 15 myopathies due to deficiency of enzymes involved in energy substrate utilization have been described. In this review two main categories of enzymopathies, glycogenosis and mitochondrial disorders, are discussed. Clinically, the patients with these categories of enzyme defects present two major syndromes: (a) acute recurrent muscle impairment, generally related to exercise, associated with cramps and/or myoglobinuria; (b) progressive muscular weakness and wasting eventually associated with signs of affected organs other than skeletal muscle. Defects of glycogen breakdown and of the first step of glycolysis are more frequently associated with acute exercise intolerance, such as in myophosphorylase and phosphofructokinase deficiencies, but may be associated with progressive muscle weakness and wasting, such as in acid maltase and debrancher enzyme deficiency. Clinical heterogeneity is common in these disorders, but a biochemical explanation for their different clinical expression is still lacking. Defects of the second step of glycolysis, phosphoglycerate kinase, phosphoglycerate mutase and lactate dehydrogenase deficiencies, have been discovered recently and are associated with exercise intolerance. The reason for muscle weakness and atrophy in glycogenosis is still unclear, although it has been suggested that excessive protein catabolism occurs in myophosphorylase, debrancher and acid maltase deficiencies. Myopathies due to deficiencies of mitochondrial enzymes are less well defined, as a group, than the glycogenoses. They are currently considered to fall into three main groups: (a) defects of substrate utilization, such as carnitine palmitoyltransferase deficiency; (b) defects of respiratory chain complexes, such as cytochrome-c-oxidase deficiency and (c) defects of phosphorylation-respiration coupling, such as Luft's disease. Again, severe and benign exercise intolerance or progressive life-threatening myopathic syndromes may be the clinical expression of these disorders. Detailed biochemical and morphological studies of muscle biopsies are needed in these patients to obtain a definite diagnosis and prognosis, and to decide on eventual treatment.

Original languageEnglish
Pages (from-to)329-340
Number of pages12
JournalJournal of Neurology
Volume232
Issue number6
DOIs
Publication statusPublished - Dec 1985

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Muscular Diseases
Glycogen Storage Disease
Muscle Weakness
Glycogen Storage Disease Type V
Exercise
Glycolysis
Enzymes
Muscle Form Glycogen Phosphorylase
Glycogen Storage Disease Type III
Cytochrome-c Oxidase Deficiency
Phosphoglycerate Mutase
Myoglobinuria
Mitochondrial Myopathies
Glycogen Storage Disease Type II
Phosphoglycerate Kinase
Carnitine O-Palmitoyltransferase
Muscle Cramp
Phosphofructokinases
Mitochondrial Diseases
Muscles

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Myopathies due to enzyme deficiencies. / Cornelio, F.; DiDonato, S.

In: Journal of Neurology, Vol. 232, No. 6, 12.1985, p. 329-340.

Research output: Contribution to journalArticle

Cornelio, F & DiDonato, S 1985, 'Myopathies due to enzyme deficiencies', Journal of Neurology, vol. 232, no. 6, pp. 329-340. https://doi.org/10.1007/BF00313831
Cornelio, F. ; DiDonato, S. / Myopathies due to enzyme deficiencies. In: Journal of Neurology. 1985 ; Vol. 232, No. 6. pp. 329-340.
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