PURPOSE To identify a pattern of findings on CT or MR of the brain in glutaric acidemia type I typical enough to permit a correct diagnosis. METHODS Clinical history and findings and brain CT and MR results in 59 previously reported patients (MR in 12) and in 5 new patients (all examined with MR and 3 also with CT) were reviewed. RESULTS In half the patients macrocephaly was present, and in...

In the autosomal recessive human disease, glutaric aciduria type I (GA-1), glutaryl-CoA dehydrogenase (GCDH) deficiency disrupts the mitochondrial catabolism of lysine and tryptophan. Affected individuals accumulate glutaric acid (GA) and 3-hydroxyglutaric acid (3-OHGA) in the serum and often suffer acute striatal injury in childhood. Prior attempts to produce selective striatal vulnerability i...

Application of cavity ring down (CRD) spectrometry for measuring the optical properties of pure and mixed laboratory-generated aerosols is presented. The extinction coefficient (α ext), extinction cross section (σ ext) and extinction efficiency (Q ext) were measured for polystyrene spheres (PSS), ammonium sulphate ((NH 4) 2 (SO 4)), sodium 5 chloride (NaCl), glutaric acid (GA), and Rhodamine-59...

Results We diagnosed 148 cases of IEM by urine GC-MS analysis, including 97 cases of organic acid disorders, 41 cases of amion acid disorders and 10 cases of fatty acid oxidative disorders. Methylmalonic aciduria (MMA) was most common (48 cases), followed by urea cycle disorder (21 cases), phenylketonuria (20 cases), propionic aciduria (11 cases), multiple carboxylase deficiency (8 cases), glut...

Glutaric acidemia type I (GA-I) is an inherited neurometabolic childhood disorder caused by defective activity of glutaryl CoA dehydrogenase (GCDH) which disturb lysine (Lys) and tryptophan catabolism leading to neurotoxic accumulation of glutaric acid (GA) and related metabolites. However, it remains unknown whether GA toxicity is due to direct effects on vulnerable neurons or mediated by GA-i...

A homologous series of cationic gas-phase clusters of dicarboxylic acids (oxalic acid, malonic acid, succinic acid, glutaric acid, and adipic acid) generated via electrospray ionization (ESI) are investigated using collision-induced dissociation (CID). Singly charged cationic clusters with the composition (Na(+))(2n+1)(dicarboxylate(2-))(n), where n = 1-5, are observed as major gas-phase specie...

The number of high level MOOCs produced by top universities can contribute to an increasing flexibility in academia but we seem somewhat hesitant in offering them to our students. When Wageningen university decided to integrate its own MOOCs in the electives for the campus students, we discovered that most obstacles were caused by academic beliefs and systems, anchored in our face to face educa...