Diagnóstico y seguimiento de 23 niños con acidurias orgánicas

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 cl...

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Autores principales:	Cornejo E,Verónica, Colombo C,Marta, Durán S,Gloria, Mabe S,Paulina, Jiménez M,Mónica, De la Parra C,Alicia, Valiente G,Alf, Raimann B,Erna
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2002
Materias:	Acidurias organic Enzymes Genetics medical Kidney failure
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872002000300003
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spelling	oai:scielo:S0034-988720020003000032002-07-24Diagnóstico y seguimiento de 23 niños con acidurias orgánicasCornejo E,VerónicaColombo C,MartaDurán S,GloriaMabe S,PaulinaJiménez M,MónicaDe la Parra C,AliciaValiente G,AlfRaimann B,Erna Acidurias organic Enzymes Genetics medical Kidney failure 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. Aim: To report 23 children with organic acidurias. Material and 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 µg/dl. The figure for MMA was 933±801.9 µg/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 aciduras. 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 (Rev Méd Chile 2002; 130: 259-66)info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.130 n.3 20022002-03-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872002000300003es10.4067/S0034-98872002000300003
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Acidurias organic Enzymes Genetics medical Kidney failure
spellingShingle	Acidurias organic Enzymes Genetics medical Kidney failure Cornejo E,Verónica Colombo C,Marta Durán S,Gloria Mabe S,Paulina Jiménez M,Mónica De la Parra C,Alicia Valiente G,Alf Raimann B,Erna Diagnóstico y seguimiento de 23 niños con acidurias orgánicas
description	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. Aim: To report 23 children with organic acidurias. Material and 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 µg/dl. The figure for MMA was 933±801.9 µg/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 aciduras. 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 (Rev Méd Chile 2002; 130: 259-66)
author	Cornejo E,Verónica Colombo C,Marta Durán S,Gloria Mabe S,Paulina Jiménez M,Mónica De la Parra C,Alicia Valiente G,Alf Raimann B,Erna
author_facet	Cornejo E,Verónica Colombo C,Marta Durán S,Gloria Mabe S,Paulina Jiménez M,Mónica De la Parra C,Alicia Valiente G,Alf Raimann B,Erna
author_sort	Cornejo E,Verónica
title	Diagnóstico y seguimiento de 23 niños con acidurias orgánicas
title_short	Diagnóstico y seguimiento de 23 niños con acidurias orgánicas
title_full	Diagnóstico y seguimiento de 23 niños con acidurias orgánicas
title_fullStr	Diagnóstico y seguimiento de 23 niños con acidurias orgánicas
title_full_unstemmed	Diagnóstico y seguimiento de 23 niños con acidurias orgánicas
title_sort	diagnóstico y seguimiento de 23 niños con acidurias orgánicas
publisher	Sociedad Médica de Santiago
publishDate	2002
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872002000300003
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Diagnóstico y seguimiento de 23 niños con acidurias orgánicas

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