Volume 2, Number 1 (3-2014)                   Clin Exc 2014, 2(1): 116-120 | Back to browse issues page


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Sotoudei A, Mosallanejad A, Abbasi F, Sayarifard F, ShabaniMirzaee H, Mohammadi L. Glutaric aciduria Type II, clinical presentation and medical approach. Clin Exc . 2014; 2 (1) :116-120
URL: http://ce.mazums.ac.ir/article-1-83-en.html

Abstract:   (8757 Views)

  An infant with glutaric aciduria type II or multiple acyl-CoA dehydrogenase deficiency (MADD) was described in this case report. The clinical findings were metabolic acidosis, hypoglycemia and hypotonia. An elevated glutaric acid, 2-hydroxyglutaric acid and isobuteric acid were found in his urine. Several medium and long chain acyl carnitines were increased in blood. The pattern of accumulated metabolites was consistent with defect in activity of acyl-CoA dehydrogenase.

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Type of Study: Review | Subject: غدد و متابولیسم کودکان
Received: 2014/01/15 | Accepted: 2014/02/17 | Published: 2014/03/1

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