Biomaterial Database

[Enzyme diagnosis in progressive muscular dystrophies, especially in the Duchenne type]. 1989

W Pernice, and R Beckmann, and S Renner, and U Wais

Abteilung Pädiatrische Muskelerkrankungen.

The serum activities of muscular enzymes are important for the diagnosis and follow-up of muscular diseases. They reflect the degeneration of muscular tissue. The serum enzyme activities (creatine kinase (CK), creatine kinase MB (CKMB), Aldolase (ALD), Lactat-dehydrogenase (LDH), a hydroxy-buty-rat-dehydrogenase (a-HBDH), glutamat-oxalacetat-transaminase (GOT), and glutamat-pyruvat-transaminase (GPT) in Duchenne muscular dystrophy show an increase during the first three years of life, a maximum between the age of 3 and 4 and an asymptotic decline thereafter. Taking the blood samples under non-standardised conditions the coefficients of variation (VK) differed considerably. For a -HBDH the lowest value was obtained (VK = 0.37). The VK-value of ALD was comparatively high (VK = 0.68). The correlation among the enzymes themselves was high and a-HBDH correlated closest to LDH and a-HBDH also to GPT. Thus we conclude that LDH, ALD- and GPT-determinations may be abandoned in Duchenne dystrophy. In Duchenne muscular dystrophy the course of the different enzyme activities can be described by an heuristic mathematical formula (y = Ae-at + bte-ct). With its aid it is possible to calculate the value of the constant c individually for each patient, if at least 4 enzyme values distributed over 3 or more years are available. The evaluation of the enzymes and clinical data of 88 Duchenne patients has shown that the value of constant c is individually correlated to the speed of progression of the disease. This proved most reliable in the case of the CK (r = 0.43 resp. 0.76) and CKMB (r = 0.45). The mean of the constant c in the group of Duchenne patients (n = 88) was -0.29/year, in Beckers dystrophy (n = 7) -0.14/year and in limb girdle dystrophy (n = 12) -0.21/year. In Duchenne muscular dystrophy the calculation of constant c renders it possible to select patients with similar velocity of progression to reinforce the "power of therapeutic studies". The evaluation of pilot studies may be more objective, if the enzyme values actually measured under therapy are compared with those prospectively estimated by mathematical analysis of the course of the enzyme values before treatment.

UI	MeSH Term	Description	Entries
D007527	Isoenzymes	Structurally related forms of an enzyme. Each isoenzyme has the same mechanism and classification, but differs in its chemical, physical, or immunological characteristics.	Alloenzyme,Allozyme,Isoenzyme,Isozyme,Isozymes,Alloenzymes,Allozymes
D007770	L-Lactate Dehydrogenase	A tetrameric enzyme that, along with the coenzyme NAD+, catalyzes the interconversion of LACTATE and PYRUVATE. In vertebrates, genes for three different subunits (LDH-A, LDH-B and LDH-C) exist.	Lactate Dehydrogenase,Dehydrogenase, L-Lactate,Dehydrogenase, Lactate,L Lactate Dehydrogenase
D008297	Male		Males
D009132	Muscles	Contractile tissue that produces movement in animals.	Muscle Tissue,Muscle,Muscle Tissues,Tissue, Muscle,Tissues, Muscle
D009136	Muscular Dystrophies	A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS.	Muscular Dystrophy,Myodystrophica,Myodystrophy,Dystrophies, Muscular,Dystrophy, Muscular,Myodystrophicas,Myodystrophies
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D003402	Creatine Kinase	A transferase that catalyzes formation of PHOSPHOCREATINE from ATP + CREATINE. The reaction stores ATP energy as phosphocreatine. Three cytoplasmic ISOENZYMES have been identified in human tissues: the MM type from SKELETAL MUSCLE, the MB type from myocardial tissue and the BB type from nervous tissue as well as a mitochondrial isoenzyme. Macro-creatine kinase refers to creatine kinase complexed with other serum proteins.	Creatine Phosphokinase,ADP Phosphocreatine Phosphotransferase,ATP Creatine Phosphotransferase,Macro-Creatine Kinase,Creatine Phosphotransferase, ATP,Kinase, Creatine,Macro Creatine Kinase,Phosphocreatine Phosphotransferase, ADP,Phosphokinase, Creatine,Phosphotransferase, ADP Phosphocreatine,Phosphotransferase, ATP Creatine
D004798	Enzymes	Biological molecules that possess catalytic activity. They may occur naturally or be synthetically created. Enzymes are usually proteins, however CATALYTIC RNA and CATALYTIC DNA molecules have also been identified.	Biocatalyst,Enzyme,Biocatalysts
D005500	Follow-Up Studies	Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease.	Followup Studies,Follow Up Studies,Follow-Up Study,Followup Study,Studies, Follow-Up,Studies, Followup,Study, Follow-Up,Study, Followup