Methylmalonic aciduria is a human autosomal recessive disorder of organic acid metabolism resulting from a functional defect in the activity of the enzyme methylmalonyl-CoA mutase. Based upon the homology of the human mutase locus with the mouse locus, we have chosen to disrupt the mouse mutase locus within the critical CoA binding domain using gene-targeting techniques to create a mouse model ...

Poster Master Thesis: “Verification of Implant Supported Fixed Presentations: Dental Prostheses: Evaluation of Gap Distance and Polymerization Time” -University of Illinois at Chicago College of Dentistry, March 2013 Publications: Tsai, AC, Morel, CF, Scharer, G, Yang, M, Lerner-Ellis, JP, Rosenblatt, DS, Thomas, JA: Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuro...

Several different epithelial elements that have intense active transport or protein secretory functions were histochemically assayed in several dehydrogenase media by a recently perfected method. The mitochondria represented the only site of activity, not only when tested in the succinate and D-beta-hydroxybutyrate media, but also when tested in the lactate, malate, and isocitrate media. The re...

Patients with methylmalonic aciduria have an excessive intramitochondrial accumulation of acylcoenzyme A compounds that may reduce the availability of free coenzyme A (CoA) for normal metabolic requirements, producing profound metabolic disturbances. Giving carnitine to a patient with methylmalonic aciduria produced an increase in hippurate excretion (an index of intramitochondrial adenosine tr...

BACKGROUND Hyperammonemia, hypoglycemia, hepatopathy, and ventricular tachycardia are common presenting features of carnitine-acylcarnitine translocase deficiency (Mendelian Inheritance in Man database: *212138), a mitochondrial fatty acid oxidation disorder with a lethal prognosis. These features have not been identified as the presenting features of mitochondrial cytopathy in the neonatal per...

BACKGROUND L-2-hydroxyglutaric aciduria is a rare autosomal recessive encephalopathy caused by mutations in the L-2-hydroxyglutarate dehydrogenase gene. We describe some novel clinical and molecular characteristics found in a boy with L-2-hydroxyglutaric aciduria. CASE PRESENTATION We report an 8-year-old Chinese boy, who had characteristic developmental delay, ataxia and acrocephaly as the m...

Orotic acid (OA) is an intermediate of pyrimidine nucleotide biosynthesis. Hereditary deficiencies in some enzymes associated with pyrimidine synthesis or the urea cycle induce OA accumulation, resulting in orotic aciduria. A link between patients with orotic aciduria and hypertension has been reported; however, the molecular mechanisms remain elusive. In this study, to elucidate the role of OA...

Endogenous γ-hydroxybutyric acid (GHB) concentrations in blood and urine are well documented, but there are very little data on natural levels in saliva, a biological matrix increasingly used for drug testing. We measured endogenous GHB concentrations in 120 unpaid volunteers who also provided anonymous epidemiological data. Samples were analyzed using a rapid and reliable method, utilizing liq...