A Turkish Patient With Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Mimicking Diabetic Ketoacidosis
J. inborn errors metab. screen
; 4: e150015, 2016. graf
Artigo
em Inglês
|
LILACS-Express
| LILACS
| ID: biblio-1090877
Biblioteca responsável:
BR1.1
ABSTRACT
Abstract Succinyl-CoA:3-oxoacid CoA transferase (SCOT) deficiency is an autosomal recessive disorder of ketone body utilization that is clinically characterized with intermittent ketoacidosis crises. We report here the second Turkish case with SCOT deficiency. She experienced 3 ketoacidotic episodes: The first ketoacidotic crisis mimicked diabetic ketoacidosis because of the associated hyperglycemia. Among patients with SCOT deficiency, the blood glucose levels at the first crises were variable, and this case had the highest ever reported blood glucose level. She is a compound heterozygote with 2 novel mutations, c.517A>G (K173E) and c.1543A>G (M515V), in exons 5 and 17 of the OXCT1 gene, respectively. In patient's fibroblasts, SCOT activity was deficient and, by immunoblot analysis, SCOT protein was much reduced. The patient attained normal development and had no permanent ketosis. The accurate diagnosis of SCOT deficiency in this case had a vital impact on the management strategy and outcome.
Texto completo:
Disponível
Coleções:
Bases de dados internacionais
Base de dados:
LILACS
Idioma:
Inglês
Revista:
J. inborn errors metab. screen
Assunto da revista:
Medicina Cl¡nica
/
Patologia
Ano de publicação:
2016
Tipo de documento:
Artigo
/
Documento de projeto
País de afiliação:
Japão
/
Turquia
Instituição/País de afiliação:
Gifu University/JP
/
Uluda? University Faculty of Medicine/TR
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Uluda? University/TR