Titlebook: Organic Acidurias; Proceedings of the 2 G. M. Addison,R. A. Chalmers,R. J. Pollitt Conference proceedings 1984 SSIEM and MTP Press Limited

Acquired

J. B. Clark,D. J. Hayes,J. A. Morgan-Hughes,E. Byrne live births. Thus for some women at least, childbirth is now easier and safer than it has ever been in human history. However for others it remains extremely dangerous. More than half a million still die from pregnancy-related causes each year, almost all of them in the third world, where 86 per ce

冰雹

珊瑚

Prefaceed by the Society in 1972 (the 9th Annual SSIEM Symposium). Although relatively few of these disorders were recognized at that time, the symposium was prompted by the then recent identification between 1966 and 1970 of isovaleric acidaemia, methylmalonic aciduria, propionic acidaemia, pyroglutamic a

Allure

harrow

Long Term Outcome of Organic Acidurias: Survey of 105 French Cases (1967–1983) acidaemia, 24 methylmalonic aciduria and some rare allied disorders) is reported. Main conclusions drawn from this survey are the poor overall prognosis and the slow improvement in the outcome of such disorders over the last 15 years. In MSUD, while early diagnosis and early management remain a bas

蜈蚣

The Management and Long Term Outcome of Organic Acidaemias non-cofactor-responsive variants of methylmalonic acidaemia (eight patients), propionic acidaemia (eight patients) and isolated 3-methylcrotonyl CoA carboxylase deficiency (three patients). Their survival, growth, intellectual development and other clinical problems are analysed. With the exception

Ingrained

Prenatal Diagnosis of the Organic Aciduriasy. The two major approaches to prenatal diagnosis are the assay for deficient activity of the enzymes in cultured amniocytes and the measurement of increased concentrations of the organic acids in the amniotic fluid. The latter, when done by stable isotope dilution analysis, is rapid, relatively ine

cogent

Default

Glutaric Acidaemia Type II (Multiple Acyl-CoA Dehydrogenation Deficiency) transfer from primary FAD-containing dehydrogenases into the respiratory chain. Two proteins are involved in this process, i.e. electron transfer flavoprotein (ETF) and ETF dehydrogenase, an iron—sulphur flavoprotein with a distinctive EPR signal. Reliable catalytic assays for these proteins are no

fertilizer

Carnitine Metabolism and Inborn Errorssible aetiology of the primary muscle and primary systemic carnitine deficiency syndromes are considered and the various genetic defects of intermediary metabolism which can give rise to secondary carnitine deficiency are indicated.