Identification of Methyl‐branched Chain Dicarboxylic Acids in Amniotic Fluid and Urine in Propionic and Methylmalonic Acidemia
作者:
CORNELIS JAKOBS,
LAMBERTUS DORLAND,
LAWRENCE SWEETMAN,
MARINUS DURAN,
WILLIAM NYHAN,
SYBE WADMAN,
期刊:
Pediatric Research
(OVID Available online 1984)
卷期:
Volume 18,
issue 11
页码: 1185-1190
ISSN:0031-3998
年代: 1984
出版商: OVID
数据来源: OVID
摘要:
ABSTRACT.3-Methyladipic, 4-methylpimelic, 4-meth-ylsuberic, pimelic, and azeleic acids were identified by gas chromatography-mass spectrometry in the amniotic fluid of fetuses with propionic acidemia. These compounds were virtually undetectable in normal amniotic fluid. Concentrations much higher than those of the amniotic fluid were found in the urine of neonatal infants with propionic acidemia and methylmalonic acidemia. It appears that the accumulation of these compounds is a consequence of the accumulation of propionyl-CoA. Evidence was obtained for the presence of other methyl-branched chain dicarboxylic acids. 4-Methylpimelic acid and 4-methylsuberic acid have not previously been identified in human physiological fluids.
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