Biochemistry

GLUCOSE AND GLYCOGEN METABOLISM

(muscular biopsy)

  • Phosphoglucose mutase
  • Phosphoglucose isomerase
  • Aldolase
  • Glyceraldeyde-3P-isomerase
  • Phosphoglycerate kinase
  • Phosphoglycerate mutase
  • Enolase
  • Pyruvate kinase
  • LDH
  • Myophosphorilase
  • Phosphofructose kinase
  • Phosphorilase b kinase
  • Debranching enzyme: radioimmunological method (muscular and hepatic biopsy)
  • Branching enzyme: radioimmunological method (muscular and hepatic biopsy, fibroblasts, myoblats)
  • Neutral and acid maltase: fluorimetric method (muscular biopsy, leukocytes, fibroblasts, myoblasts)
  • Glycogen quantification and spectrum: spectrophotometric method using iodine (muscular and hepatic biopsy, fibroblasts, myoblasts)

 

OXIDATIVE METABOLISM

(mitochondrial respiratory chain activity assayed on muscular biopsy, fibroblasts and myoblasts)

  • cytochrome c oxidase
  • NADH dehydrogenase
  • DPNH-Cit C redutase
  • NADH-UQ1 reducatse (rothenon-sensitive)
  • succinate dehydrogenase
  • succinate-cytochrome c reductase
  • succinate UQ1 reductase
  • citrate synthetase

 

FATTY ACIDS BETA OXIDATION

(muscular biopsy)

  • PalmitoilCoA dehydrogenase
  • OctanoilCoA dehydrogenase
  • ButirrilCoA dehydrogenase
  • Carnihtine palmitoil transferase (isotope/forward reactions): radiological method (muscular biopsy, fibroblasts)
  • Carnithine (total and free): radiological method (muscular and hepatic biopsy)

 

OTHER ENZYMES

  • Adenylate deaminase
  • Glucose-6-P dehydrogenase
  • Thymidine phosphorilase: spectrophotometric method (leukocytes)
  • Beta glucosidase (Gaucher disease): fluorimetric method (leucocytes)

 

PLASMA METABOLITES

  • Basal lactate
  • Munsat test
  • Carnithine (total and free): radiological method (plasma, urine/24h)

 

MUSCULAR PROTEIN

(Western blotting on muscular biopsy)

  • Dystrophin (NH2, Rod domain, COOH)
  • Caveolin 3
  • Dysferlin
  • Calpain 3
  • Alpha sarcoglican
  • Beta sarcoglycan
  • Gamma sarcoglycan
  • Delta sarcoglycan
  • Desmin
  • Merosin



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