For some years now, urinary amino acid screening for inborn errors of metabolism has been routine in many institutions. In the early 1960’s, Cox and White (1) as well as Barness et a!. (2) showed the importance of measuring methylmalonate excretion in the urine of patients suffering from pernicious anemia. Since that time, detection of non-nitrogenous organic acids has taken on an importance si...

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...

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Propionic acidemia (PA) is an inborn error of protein metabolism with a variable clinical presentation ranging from neonatal encephalopathy to seemingly asymptomatic individuals who present with cardiomyopathy or sudden death. PA is recognized in the Amish population, often with an early asymptomatic course and eventual cardiac complications. Thus, Amish women with PA may reach reproductive age...

BACKGROUND We applied untargeted mass spectrometry-based metabolomics to the diseases methylmalonic acidemia (MMA) and propionic acidemia (PA). METHODS We used a screening platform that used untargeted, mass-based metabolomics of methanol-extracted plasma to find significantly different molecular features in human plasma samples from MMA and PA patients and from healthy individuals. Capillary...

Propionic acidemia (PA) and methylmalonic (MMA) are rare autosomal recessive disorders of propionyl-CoA (P-CoA) catabolism, caused by a deficiency in the enzymes P-CoA carboxylase methylmalonyl-CoA (M-CoA) mutase, respectively. PA MMA classified as intoxication-type inborn errors metabolism because intramitochondrial accumulation P-CoA, M-CoA, other metabolites results secondary inhibition mult...