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Selective Screening of Fatty Acids Oxidation Defects and Organic Acidemias by Liquid Chromatography/tandem Mass Spectrometry Acylcarnitine Analysis in Brazilian Patients.
Arch Med Res. 2018 04; 49(3):205-212.AM

Abstract

BACKGROUND

Inborn errors of metabolism (IEM) are diseases which can lead to accumulation of toxic metabolites in the organism.

AIM OF THE STUDY

To investigate, by selective screening, mitochondrial fatty acid oxidation defects (FAOD) and organic acidemias in Brazilian individuals with clinical suspicion of IEM.

METHODS

A total of 7,268 individuals, from different regions of Brazil, had whole blood samples impregnated on filter paper which were submitted to the acylcarnitines analysis by liquid chromatography/tandem mass spectrometry (LC/MS/MS) at the Medical Genetics Service of Hospital de Clínicas de Porto Alegre, Brazil, during July 2008-July 2016.

RESULTS

Our results showed that 68 patients (0.93%) were diagnosed with FAOD (19 cases) and organic acidemias (49 cases). The most prevalent FAOD was multiple acyl CoA dehydrogenase deficiency (MADD), whereas glutaric type I and 3-OH-3-methylglutaric acidemias were the most frequent disorders of organic acid metabolism. Neurologic symptoms and metabolic acidosis were the most common clinical and laboratory features, whereas the average age of the patients at diagnosis was 2.3 years.

CONCLUSIONS

Results demonstrated a high incidence of glutaric acidemia type I and 3-OH-3- methylglutaric acidemia in Brazil and an unexpectedly low incidence of FAOD, particularly medium-chain acyl-CoA dehydrogenase deficiency (MCADD).

Authors+Show Affiliations

Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Faculdade de Farmácia, UFRGS, Porto Alegre, RS, Brazil; Programa de Pós-Graduação em Ciências Biológicas, Bioquímica, Faculdade de Farmácia, UFRGS, Porto Alegre, RS, Brazil; Programa de Pós-Graduação em Ciências Farmacêuticas, Faculdade de Farmácia, UFRGS, Porto Alegre, RS, Brazil. Electronic address: crvargas@hcpa.edu.br.Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Faculdade de Farmácia, UFRGS, Porto Alegre, RS, Brazil.Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Programa de Pós-Graduação em Ciências Biológicas, Bioquímica, Faculdade de Farmácia, UFRGS, Porto Alegre, RS, Brazil.

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

30119976

Citation

Vargas, Carmen Regla, et al. "Selective Screening of Fatty Acids Oxidation Defects and Organic Acidemias By Liquid Chromatography/tandem Mass Spectrometry Acylcarnitine Analysis in Brazilian Patients." Archives of Medical Research, vol. 49, no. 3, 2018, pp. 205-212.
Vargas CR, Ribas GS, da Silva JM, et al. Selective Screening of Fatty Acids Oxidation Defects and Organic Acidemias by Liquid Chromatography/tandem Mass Spectrometry Acylcarnitine Analysis in Brazilian Patients. Arch Med Res. 2018;49(3):205-212.
Vargas, C. R., Ribas, G. S., da Silva, J. M., Sitta, A., Deon, M., de Moura Coelho, D., & Wajner, M. (2018). Selective Screening of Fatty Acids Oxidation Defects and Organic Acidemias by Liquid Chromatography/tandem Mass Spectrometry Acylcarnitine Analysis in Brazilian Patients. Archives of Medical Research, 49(3), 205-212. https://doi.org/10.1016/j.arcmed.2018.08.004
Vargas CR, et al. Selective Screening of Fatty Acids Oxidation Defects and Organic Acidemias By Liquid Chromatography/tandem Mass Spectrometry Acylcarnitine Analysis in Brazilian Patients. Arch Med Res. 2018;49(3):205-212. PubMed PMID: 30119976.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Selective Screening of Fatty Acids Oxidation Defects and Organic Acidemias by Liquid Chromatography/tandem Mass Spectrometry Acylcarnitine Analysis in Brazilian Patients. AU - Vargas,Carmen Regla, AU - Ribas,Graziela Schmitt, AU - da Silva,Janine Machado, AU - Sitta,Angela, AU - Deon,Marion, AU - de Moura Coelho,Daniella, AU - Wajner,Moacir, Y1 - 2018/08/16/ PY - 2018/06/14/received PY - 2018/08/08/accepted PY - 2018/8/19/pubmed PY - 2019/8/9/medline PY - 2018/8/19/entrez KW - Fatty acids oxidation defects KW - Inborn errors of metabolism KW - Liquid chromatography coupled to tandem mass spectrometry KW - Organic acidemias SP - 205 EP - 212 JF - Archives of medical research JO - Arch. Med. Res. VL - 49 IS - 3 N2 - BACKGROUND: Inborn errors of metabolism (IEM) are diseases which can lead to accumulation of toxic metabolites in the organism. AIM OF THE STUDY: To investigate, by selective screening, mitochondrial fatty acid oxidation defects (FAOD) and organic acidemias in Brazilian individuals with clinical suspicion of IEM. METHODS: A total of 7,268 individuals, from different regions of Brazil, had whole blood samples impregnated on filter paper which were submitted to the acylcarnitines analysis by liquid chromatography/tandem mass spectrometry (LC/MS/MS) at the Medical Genetics Service of Hospital de Clínicas de Porto Alegre, Brazil, during July 2008-July 2016. RESULTS: Our results showed that 68 patients (0.93%) were diagnosed with FAOD (19 cases) and organic acidemias (49 cases). The most prevalent FAOD was multiple acyl CoA dehydrogenase deficiency (MADD), whereas glutaric type I and 3-OH-3-methylglutaric acidemias were the most frequent disorders of organic acid metabolism. Neurologic symptoms and metabolic acidosis were the most common clinical and laboratory features, whereas the average age of the patients at diagnosis was 2.3 years. CONCLUSIONS: Results demonstrated a high incidence of glutaric acidemia type I and 3-OH-3- methylglutaric acidemia in Brazil and an unexpectedly low incidence of FAOD, particularly medium-chain acyl-CoA dehydrogenase deficiency (MCADD). SN - 1873-5487 UR - https://www.unboundmedicine.com/medline/citation/30119976/Selective_Screening_of_Fatty_Acids_Oxidation_Defects_and_Organic_Acidemias_by_Liquid_Chromatography/tandem_Mass_Spectrometry_Acylcarnitine_Analysis_in_Brazilian_Patients_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0188-4409(18)30258-3 DB - PRIME DP - Unbound Medicine ER -