title: Isolated methylmalonic acidemia: a case report.
abstract: Isolated methylmalonic acidemia (AMR) is an inborn error of metabolism due to an enzymatic deficit in methylmalonyl-CoA mutase. AMR lead to increased methylmalonic acid in plasma and urine without hyperhomocysteinemia. The clinical signs are recurrent episodes of ketoacidosis and bouts of vomiting, dehydration and mental retardation. These symptoms do not respond to the administration of vitamin B12. We report a case of a ten-months-old infant to whom the diagnosis was suspected in the presence of a metabolic acidosis, hyperammonemia, without hepatic impairment and ketosis. The chromatography of organic acids showed elevated methylmalonic acid levels. Molecular genetics allowed confirming the diagnosis of deficit in methylmalonyl-CoA mutase demonstrating the genetic abnormality of the gene MUT.
authors: Laboratoire de biochimie, CHU Montpellier, France.
authors: Tarik
authors: T
authors: Es Sadki
authors: Laboratoire de biochimie, CHU Montpellier, France.
authors: Stéphanie
authors: S
authors: Badiou
authors: Département de réanimation pédiatrique, CHU Montpellier, France.
authors: Mathilde
authors: M
authors: Boubal
authors: Département de réanimation pédiatrique, CHU Montpellier, France.
authors: Julien
authors: J
authors: Baleine
authors: Laboratoire de biochimie, CHU Montpellier, France.
authors: Victor
authors: V
authors: Sieso
authors: Laboratoire de biochimie, CHU Montpellier, France.
authors: Catherine
authors: C
authors: Vallat
authors: Laboratoire de biochimie, CHU Montpellier, France.
authors: Jean-Paul
authors: JP
authors: Cristol
authors: Services des maladies héréditaires du métabolisme et dépistage néonatal, CHU Lyon, France.
authors: Christine
authors: C
authors: Vianey-Saban
authors: Département de réanimation pédiatrique, CHU Montpellier, France.
authors: Gilles
authors: G
authors: Cambonie
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D004252:DNA Mutational Analysis; D006801:Humans; D007223:Infant; D008297:Male; D008765:Methylmalonyl-CoA Mutase / Q000235:genetics; D020125:Mutation, Missense
chemical_list: D008765:Methylmalonyl-CoA Mutase
keywords: gene MUT; hyperammoniemia; methylmalonic acidemia; methylmalonyl-CoA mutase; vitamin B12