Many inborn errors of metabolism are characterized by an increase in the concentrations of various carboxylic acids in blood and urine. For example, the metabolic disorders propionic acidemia [ 11, methylmalonic aciduria [ 2,3], maple syrup urine disease [4], isovaleric acidemia [ 41 and glutaric aciduria type II [ 5,6] show increased amounts of volatile carboxylic acids in blood or urine. Proc...

We investigated the compartmentation of the catabolism of dodecanedioate (DODA), azelate, and glutarate in perfused rat livers, using a combination of metabolomics and mass isotopomer analyses. Livers were perfused with recirculating or nonrecirculating buffer containing one fully (13)C-labeled dicarboxylate. Information on the peroxisomal versus mitochondrial catabolism was gathered from the l...

An 18-month-old girl presented with recurrent episodes of encephalopathy, starting from the third postnatal day, and delayed development. Her parents were nonconsanguineous. She had microcephaly, generalized hypotonia, brisk stretch reflexes, extensor plantar response, choreiform movements, and dystonia of hands and feet. Evaluation showed metabolic acidosis and hyperammonemia. Tandem mass spec...

Aminoglycosides and other compounds can promote premature termination codon (PTC) readthrough constituting a potential therapy for patients with nonsense mutations. In a cohort of 190 propionic acidemia (PA) patients, we have identified 12 different nonsense mutations, six of them novel, accounting for 10% of the mutant alleles. Using an in vitro system, we establish the proof-of-principle that...

Patients with organic acidemia are prone to different infections, which lead to acidosis episodes. Some studies have evaluated the status of immune system in acidotic phase in these patients, but to the best of our knowledge no study has evaluated the immune system in non-acidotic phase of the disease. In this study, thirty-one patients with organic acidemia were enrolled. For evaluation of hum...

Case presentation: The case is about a 1 year and 9 month old infant, child of consanguineous parents, born at term, Apgar 9/10, with respiratory distress, vomiting hypoactivity starting 48 hours life, laboratory tests were performed that showed severe metabolic acidosis, in addition to not being suggestive infection blood culture without microorganisms growth. At the time, measurement organic ...

inherited disease, 7th ed. New York: McGraw-Hill, 1995:791–801. 5. Tanaka K, Orr JC, Isselbacher KJ. The identification of -hydroxyisovaleric acid in the urine of a patient with isovaleric acidemia. Biochem Biophys Acta 1968;152:638–41. 6. Tanaka K, Ikeda Y, Matsubara Y, Hyman D. Molecular basis of isovaleric acidemia in the study of the acyl-CoA dehydrogenase family. Adv Neurol 1988;48:107–31....