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