Screening for neonatal Duchenne muscular dystrophy by bioluminescence measurement of creatine kinase in a blood sample spotted on paper.
Neonatal screening for Duchenne-type muscular dystrophy is greatly simplified by use of a new bioluminescence procedure for creatine kinase. The blood of newborn myopathic children consistently showed increased activity. The improved method permits the analysis from a dried sample of whole blood spotted on filter paper; it shows high correlation with existing procedures and is highly specific and precise. The use of the improved method in a screening program involving 158 000 newborns is reviewed. We find a prevalence of 1/5929 living eighth-day boys.
D000255:Adenosine Triphosphate / Q000378:metabolism; D003402:Creatine Kinase / Q000097:blood* / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D008156:Luciferases; D008163:Luminescent Measurements; D008403:Mass Screening; D008722:Methods; D009136:Muscular Dystrophies / Q000097:blood* / Q000453:epidemiology
D000255:Adenosine Triphosphate; D008156:Luciferases; D003402:Creatine Kinase