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...

BACKGROUND Patients with propionic acidemia usually present in the neonatal period with life-threatening ketoacidosis, often complicated by hyperammonemia. It was thought that the neurologic abnormalities seen in this disease were exclusively the consequences of these acute crises. Experience with 2 patients with propionic acidemia indicates that this disease may present first with prominent ne...

Propionic acidemia is an organic acidemia that can lead to metabolic acidosis, coma and death, if not treated appropriately in the acute setting. Recent advancements in treatment have allowed patients with propionic acidemia to live beyond the neonatal period and acute presentation. The natural history of the disease is just beginning to be elucidated as individuals reach older ages. Recent stu...

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....

organic acidemias are the group of metabolic disorders which define by high anion gap metabolic acidosis, hypo or hyperglycemia & hyperammonemia.because of the severity of disease in children and its fatality in severe form of disease and also need for life long treatment, prenatal diagnosis is an important diagnostic tool.three approaches to prenatal diagnosis may be possible, including measur...

OBJECTIVE Metabolic disorders, which involve many different organs, can be ascribed to enzyme deficiency or dysfunction and manifest with a wide range of clinical symptoms. This study evaluated some of the demographic and clinical findings in pediatric patients affected by organic acidemia. MATERIALS & METHODS This cross-sectional study was part of a larger study conducted in patients with me...

Treatment with L-carnitine greatly enhanced the formation and excretion of short-chain acylcarnitines in three patients with propionic acidemia and in three normal controls. The use of fast atom bombardment mass spectrometry and linked scanning at constant magnetic (B) to electric (E) field ratio identified the acylcarnitine as propionylcarnitine in patients with propionic acidemia. The normal ...

D. E. Marco ([email protected]), Lab. de Ecologı́a Matemática, Area de Producción Orgánica, Facultad de Ciencias Agropecuarias, Univ. Nacional de Córdoba, Ciudad Univ., CC 509, 5000 Córdoba, Argentina. M. A. Montemurro, Faculty of Life Sciences, Univ. of Manchester, Oxford Road, Manchester, M13 9PT, UK. S. A. Cannas, IFEG (CONICET), Facultad de Matemática, Astronomı́a y Fı́sica, Univ. Naciona...

OBJECTIVE: The aim of this work was to evaluate a protocol for investigation of Inborn Errors of Metabolism (IEM) in children who are acutely ill.METHODS: Forty six children with clinical suspicion of a metabolic disorder were studied during 2 years. They were selected through request for investigation of IEM from Pediatrics or Neonatal Intensive Care Units located in the metropolitan area of P...

The metabolic products of propionate metabolism in man were studied by determining the pattern of isotope in the urine following the intravenous injection of [lJ%]propionate. A major peak of radioactivity not present in control subjects was found in an organic acid in two patients with propionic acidemia and a patient with methylmalonic acidemia. This labeled compound was characterized as methy...