Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:4.1.2.13 (aldolase)
 3,461 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Conversion of glucose to fructose via sorbitol depends upon the enzymes aldose reductase and sorbitol dehydrogenase and is called the polyol pathway. It is particularly active in muscle from patients with X-linked muscular dystrophies (15). This investigation shows enhanced metabolism of glucose to fructose in muscle from patients with ALS. Evidence is also presented showing increased activities of ketohexokinase and F-1-P splitting aldolase, which suggests that further metabolism of fructose may occur via a fructolytic pathway. Investigation of protein glycation, by an adapted fructosamine assay, in post mortem muscle, sural nerve and blood indicates that there is an increased concentration of glucose in muscle and nerve in the period prior to sampling, but blood glucose concentrations were within normal limits. The implications of fructolysis and the relationship of altered glucose metabolism in ALS are discussed.
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PMID:Peripheral nerve protein glycation and muscle fructolysis: evidence of abnormal carbohydrate metabolism in ALS. 833 Jul 52

Five male Irish Terrier puppies had a stiff gait, difficulty in swallowing, dirty cheeks because of food residues, an enlarged tongue and atrophic muscles. At electromyographical examination high-frequency discharges suggestive of myotonia were present. The values for serum creatine-phosphokinase and aldolase were extremely high. Serum vitamin E values were normal. At necropsy the muscles were pale with yellowish white streaks. Histologically there was a patchy distribution of the lesions. Granular and floccular changes (Zenker's degeneration) with phagocytosis, giant cells and calcification were found. Histochemical changes were the same in all muscles investigated, but were not equally pronounced. In the muscle specimens with greatest change the distinction between type I and type II fibres was largely lost. Rounded hypertrophic fibres contained no glycogen, and most did not show activity of phosphorylase, dehydrogenases, and oxidases. Activity of glyccrol-3-phosphate oxidase and acid phosphatase was markedly increased. Abnormal mitochondria and unknown electron-dense bodies were found. The tubular system seemed to be reduced in some abnormal fibres. The disease is probably recessive X-linked.
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PMID:Myopathy with a Possible Recessive X-Linked Inheritance in a Litter of Irish Terriers. 2988 6