Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A

Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A

The case of a boy with predominantly myopathic symptoms of aldose A deficiency due to the substitution of a single amino acid within the subunit interface most essential for the tetrameric structure of the enzyme is described. A severe disturbance of energy production as a cause of hemolysis and myo...

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Veröffentlicht in:The New England journal of medicine 1996-04, Vol.334 (17), p.1100-1104
Hauptverfasser: Kreuder, J, Borkhardt, A, Repp, R, Pekrun, A, Göttsche, B, Gottschalk, U, Reichmann, H, Schachenmayr, W, Schlegel, K, Lampert, F
Format: Artikel
Sprache:eng
Schlagworte:
Adenosine Triphosphate - analysis
Amino acids
Base Sequence
Child, Preschool
Enzymes
Erythrocytes - enzymology
Erythrocytes - metabolism
Fructose-Bisphosphate Aldolase - deficiency
Fructose-Bisphosphate Aldolase - genetics
Fructose-Bisphosphate Aldolase - metabolism
Hemolysis - genetics
Humans
Male
Medical disorders
Microscopy, Electron
Molecular Sequence Data
Muscle Fatigue - genetics
Muscle Weakness - genetics
Muscle Weakness - pathology
Muscle, Skeletal - pathology
Muscle, Skeletal - ultrastructure
Muscular system
Mutation
Point Mutation
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Beschreibung
Zusammenfassung:The case of a boy with predominantly myopathic symptoms of aldose A deficiency due to the substitution of a single amino acid within the subunit interface most essential for the tetrameric structure of the enzyme is described. A severe disturbance of energy production as a cause of hemolysis and myopathy was found.
ISSN:0028-4793
1533-4406
DOI:10.1056/NEJM199604253341705