title: [Diagnosis and follow up of 23 children with organic acidurias].
abstract: BACKGROUND
  Propionic aciduria (PA) and Methymalonic aciduria (MMA) result from an inherited abnormality of the enzymes propionyl CoA carboxylase and methylmalonyl CoA mutase respectively. This produces marked increases in the amino acids methionine, threonine, valine and isoleucine (MTVI). Their clinical presentation can be neonatal or late onset forms.
  
  
  OBJECTIVE
  To report 23 children with organic acidurias.
  
  
  METHODS
  Twenty three cases of organic acidurias diagnosed since 1980 (17 PA and 6 MMA) and followed at the Institute of Nutrition and Food Technology, are reported.
  
  
  RESULTS
  The average age of diagnosis was 3.9 days for the neonatal form and 8.3 months for the late onset form. The most frequent symptoms were hypotonia, lethargy and vomiting. Neonatal PA had mean ammonemias of 1089 +/- 678.3 micrograms/dl. The figure for MMA was 933 +/- 801.9 micrograms/dl. Seven children were dialyzed and 30% died. 16 children are followed and 81.2% have normal weight for age. Seven children required gastrostomy because of anorexia and failure to thrive. The nutritional treatment is based on natural and artificial proteins without MTVI, with periodical controls, amino acid and ammonia quantification. Some patients were submitted to enzyme assays and molecular studies.
  
  
  CONCLUSIONS
  An early diagnosis and a very strict follow up allows a normal development of children with organic acidurias. There is a relationship between prognosis and the presentation form, the nutritional status and the emergency treatment during acute episodes. The importance of the enzymatic and molecular studies is emphasized because they facilitate treatment, accurate diagnosis and allow an adequate genetic counseling.
authors.affiliation: Unidad de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos (INTA), Universidad de Chile, Laboratorio Clínico, Hospital Van Buren, Valparaíso. vcornejo@uec.inta.uchile.cl
authors.forename: Verónica
authors.initials: V
authors.lastname: Cornejo
authors.forename: Marta
authors.initials: M
authors.lastname: Colombo
authors.forename: Gloria
authors.initials: G
authors.lastname: Durán
authors.forename: Paulina
authors.initials: P
authors.lastname: Mabe
authors.forename: Mónica
authors.initials: M
authors.lastname: Jiménez
authors.forename: Alicia
authors.initials: A
authors.lastname: De la Parra
authors.forename: Alf
authors.initials: A
authors.lastname: Valiente
authors.forename: Erna
authors.initials: E
authors.lastname: Raimann
mesh_terms: D002262:Carboxy-Lyases / Q000652:urine*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000652:urine*; D043586:Methylmalonyl-CoA Decarboxylase; D008765:Methylmalonyl-CoA Mutase / Q000652:urine*
chemical_list: D002262:Carboxy-Lyases; D008765:Methylmalonyl-CoA Mutase; D043586:Methylmalonyl-CoA Decarboxylase
vernacular_title: Diagnóstico y seguimiento de 23 niños con acidurias orgánicas.