A 5-day-old male infant with an increased dried blood spot propionylcarnitine (C3-carnitine) value of 7.93 mol/L (cutoff 6.79 mol/L) was identified by the New Jersey state newborn screening program. C3carnitine is used as a screening tool for methylmalonic and propionic acidemias, potentially fatal but treatable inborn errors of metabolism. The initial screen values provided a calculated C3:C2 ...

The clinical presentation and results of the initial biochemical and haematological investigations in 11 newborn term infants with propionic acidaemia are described. All patients had neurological symptoms. Only four had clinically important acidosis, but all had a raised blood ammonia. A diagnosis of propionic acidaemia should be considered in all newborn infants with unexplained neurological d...

BACKGROUND The aim of the study was to investigate the effects of probiotics on moderate or severe atopic dermatitis (AD) in young children. METHODS Fifty six children aged 6-18 months with moderate or severe AD were recruited into a randomised double blind placebo controlled trial in Perth, Western Australia; 53 children completed the study. The children were given a probiotic (1x10(9)Lactob...

für Naturforschung in cooperation with the Max Planck Society for the Advancement of Science under a Creative Commons Attribution 4.0 International License. Dieses Werk wurde im Jahr 2013 vom Verlag Zeitschrift für Naturforschung in Zusammenarbeit mit der Max-Planck-Gesellschaft zur Förderung der Wissenschaften e.V. digitalisiert und unter folgender Lizenz veröffentlicht: Creative Commons Namen...

A gas-chromatographic procedure for acetaminophen is described in which the drug is chromatographed as the O-heptyl-N-methyl derivative. This derivative is prepared by a sequential alkylation procedure in which the phenolic hydroxyl group of the parent compound is alkylated off-column with heptyl iodide and the amide group is derivatized on-column by reaction with trimethylanilinium hydroxide. ...

(R)and (S)-Z-deuteriopropionyl coenzyme A of approximately 75% optical purity were prepared by a series of reactions starting from optically pure alanine. With these compounds as substrates for propionyl-CoA carboxylase, the deuterium isotope effect was found to be small and probably secondary. No tritium isotope effect was observed when enzymatically prepared 2-3H-propionyl-CoA was used as sub...

Propionic acidaemia (PA) is an autosomal recessive disease caused by a genetic deficiency of propionyl-CoA carboxylase (PCC). Defects in the PCCA and PCCB genes that code for the alpha and beta subunits of PCC, respectively, are responsible for PA. A proband with PA was previously shown to carry the c1170insT mutation and the private L519P mutation in the PCCB gene. Here we report the prenatal ...

From evidence obtained by nuclear magnetic resonance, mass and infrared spectrometry, and chemical techniques, these compounds were identified as cis-4-decene-1, lodioic, cis,cis-4,7-decadiene-1, IO-dioic, cis-4-octene-1,8dioic, glutaric, and adipic acids, N-isovalerylglycine, and N-(methylenecyclopropyl)acetylglycine. (2 KE JOME JH YL ENE CYCLOPROP YL PROPIONiC CH =C8HCH 3 D COCOOH ACID / KMCP...

A significant part of global primary productivity is provided by cyanobacteria, which are abundant in most marine and freshwater habitats. In many oceanographic regions, however, the concentration of iron can be so low that it limits growth. Cyanobacteria respond to this condition by expressing a number of iron stress inducible genes, of which the isiA gene encodes a chlorophyll-binding protein...

The separation of organic acids and their elution from silicic acid columns and their quantitative measurement by color change of buffered indicator, a technique mechanized by Kesner and Muntwyler, are applicable to the study of biological materials. As little as 25 g of acid can be measured. Elution times and color yield in terms of peak areas obtained with the commercial apparatus are given f...