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Glutaric acidemia type Ⅱ patient with thalassemia minor and novel electron transfer flavoprotein-A gene mutations:A case report and review of literature

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World Journal of Clinical Cases 2018年第14期6卷 786-790页

作者： Neslihan Yildirim Saral Fehime Benli Aksungar cigdem aktuglu-zeybek Julide Coskun Ozlem Demirelce Mustafa Serteser Department of Clinical Biochemistry and Metabolism Acibadem Labmed Clinical Laboratories Istanbul 34752 Turkey Department of Medical Biochemistry School of Medicine Acibadem University Istanbul 34752 Turkey Department of Pediatric Metabolic Diseases Cerrahpasa School of Medicine Istanbul University Istanbul 34098 Turkey

Glutaric acidemia type Ⅱ （GAⅡ）, also known as multiple acyl-CoA dehydrogenase defciency, is an auto-somal recessive inborn error of amino acid and fatty acid metabolism. We report a case of GAⅡ with novel electron transfer flavoprotein （ETF）-A mutations in a 2-year-old female with thalassemia minor. The patient developed an episode of hypoglycemia and hypotonicityon the postnatal first day. Laboratory investigations revealed elevations of multiple acyl carnitines indicat-ing glutaric acidemia type Ⅱ in newborn screening analysis. Urinary organic acids were evaluated for the confrmation and revealed a high glutaric acid excretion. Genetic analysis revealed two novel mutations in the ETF-A gene, which are considered to be compound heterozygote. At the 8 mo of life ketone therapy was added, which significantly increased the neuromotor development. The patient had been closely followed for two years with carnitine, ribofavin, coenzyme Q10, and ketone supplementation in addition to a high carbohydrate diet. Although the patient had comorbidity like thalassemia minor, her neuromotor developmentwas normal for her age and had no major health problems. This specific case expands the previously reported spectrum of this disease.

关键词： Electron transfer flavoprotein-A mutation Newborn screening Glutaric acidemia type Ⅱ Inborn error of metabolism Ketone bodies Case report

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