Tiglicaciduria in Propionicacidaemia By WILLIAM L . NYHAN , TOSHIYUKI ANDO
نویسنده
چکیده
Propionicacidaemia is an inborn error of organic acid metabolism in which there is a defect in propionyl-CoA carboxylase activity, and a clinical picture of overwhelming illness very early in life which was originally described as ketotic hyperglycinaemia (Childs et al., 1961; Hommes et al., 1968; Hsia et al., 1970). These patients have large amounts of glycine in their blood and urine. They also have large amounts of propionic acid in body fluids (Ando et al., 1971; Gompertz et al., 1970). The excretion of ethyl methyl ketone (Menkes, 1966) is considered to result from the accumulation of propionylCoA (in experiments with intact fibroblasts we have demonstrated the conversion of ['4C]propionate into ethyl methyl ketone). The finding of tiglic acid (2-methylcrotonic acid) excretion in this condition provides additional definition of the abnormal internal biochemical environment in this disorder.
منابع مشابه
Multilocus sequence typing implicates rodents as the main reservoir host of human-pathogenic Borrelia garinii in Japan.
Multilocus sequence typing of Borrelia garinii isolates from humans and comparison with rodent and tick isolates were performed. Fifty-nine isolates were divided into two phylogenetic groups, and an association was detected between clinical and rodent isolates, suggesting that, in Japan, human-pathogenic B. garinii comes from rodents via ticks.
متن کاملارزیابی ریسک ایمنی در صنعت خودروسازی با استفاده از روش تلفیقی William Fine و DEMATEL – ANP
Background and aims: Risk assessment is one of the most important issues in making safety industrial environments. Motor vehicle industries are one of the most unsafe industries that have many annual accident. One of the most problems in the process of risk assessment is judgment about the effect of parameters of risk. The aim of the study is, safety risk assessment ...
متن کامل