Glutaric aciduria Type II, clinical presentation and medical approach

Sotoudei, Aria and Mosallanejad, Asieh and Abbasi, Farzaneh and Sayarifard, Fatemeh and ShabaniMirzaee, Hosein and Mohammadi, Li (2014) Glutaric aciduria Type II, clinical presentation and medical approach. Clinical Excellence, 2 (1). pp. 116-120.

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Official URL: http://ce.mazums.ac.ir/article-1-83-en.html

Abstract

 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.

Item Type: Article
Uncontrolled Keywords: Glutaric Aciduria Type II, Organic acidemia, Multiple Acyl-Coa Dehydrogenase Deficiency
Depositing User: Unnamed user with email eprints@mazums.ac.ir
Date Deposited: 04 Jan 2018 17:10
Last Modified: 04 Jan 2018 17:10
URI: http://eprints.mazums.ac.ir/id/eprint/2783

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