title: [Diagnosis and treatment of methylmalonic aciduria: a case report].
abstract: The methylmalonic aciduria is an organic acidemia, inherited as autosomic recessive trait, caused by a deficiency of the methylmalonyl-CoA mutase, or by defects in the biosynthesis of the cofactor adenosylcobalamin. Regarding the enzymatic defect, there are two forms: mut(o) with no detectable enzymatic activity and mut(-) with reduced activity. Its clinical presentation may vary from a severe neonatal form with acidosis and death, up to a progressive chronic form. Here we describe the case of a four year-old boy, with diagnosis of methylmalonyl-CoA mutase deficiency type mut(-) with an acute presentation. Molecular analysis of MUT gene identified two mutations c.607G>A (G203R) and c.2080C>T (R694W), later confirmed in the parents. The aim of this report is to highlight the importance of including the organic acid analysis in urine among the first line exams in acutely and severely ill children with undefined etiology. The definitive diagnosis is important because it may allow a specific treatment and a favorable evolution to prevent the secuelae.
authors: Centro de Biociencias y Medicina Molecular, Instituto de Estudios Avanzados, Venezuela. amahfoud@idea.org.ve
authors: Antonieta
authors: A
authors: Mahfoud
authors: Carmen L
authors: CL
authors: Domínguez
authors: Analy
authors: A
authors: Pérez
authors: Cristiano
authors: C
authors: Rizzo
authors: Begoña
authors: B
authors: Merinero
authors: Belén
authors: B
authors: Pérez
mesh_terms: D000138:Acidosis / Q000209:etiology; D019943:Amino Acid Substitution; D002675:Child, Preschool; D003128:Coma / Q000209:etiology; D018753:Diet, Protein-Restricted; D004200:Diseases in Twins; D005307:Fertilization in Vitro; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000178:diet therapy / Q000235:genetics / Q000652:urine; D008764:Methylmalonic Acid / Q000652:urine*; D008765:Methylmalonyl-CoA Mutase / Q000172:deficiency* / Q000235:genetics; D020125:Mutation, Missense; D017354:Point Mutation; D014429:Twins, Dizygotic; D014805:Vitamin B 12 / Q000627:therapeutic use; D014839:Vomiting / Q000209:etiology
chemical_list: D008764:Methylmalonic Acid; D008765:Methylmalonyl-CoA Mutase; D014805:Vitamin B 12