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

XML Persian Abstract Print

Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:

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:   (9699 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.

Full-Text [PDF 228 kb]   (1620 Downloads)    
Type of Study: Review | Subject: غدد و متابولیسم کودکان
Received: 2014/01/15 | Accepted: 2014/02/17 | Published: 2014/03/1

Add your comments about this article : Your username or Email:
Write the security code in the box

© 2018 All Rights Reserved | Clinical Excellence

Designed & Developed by : Yektaweb