Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.7.1.1 (hexokinase)
 5,274 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 34 year old man presented with an 8 year history of mild muscle pain and stiffness on exertion especially in the cold. Clinical examination was normal. Apart from a mild persistent leucocytosis, his routine investigations were normal including creatine kinase activity, electromyography and nerve conduction studies. An ischaemic exercise test produced a slow and incomplete rise in lactate. Histological examination showed non-specific myopathic changes in some quadriceps femoris muscle fibres. Investigation of muscle metabolism by spectrofluorometric analysis of muscle enzyme activity and by muscle fibre incubation studies revealed a severe defect in glucose phosphorylation, associated with an electrophoretically abnormal hexokinase. Further metabolic studies suggest that the block in glucose metabolism is by-passed via an enhanced phosphorylation of fructose by the abnormal hexokinase.
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PMID:A new metabolic muscle disease due to abnormal hexokinase activity. 334 90