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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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作者 Neslihan Yildirim Saral Fehime Benli Aksungar +3 位作者 Cigdem Aktuglu-Zeybek Julide Coskun Ozlem Demirelce Mustafa Serteser 《World Journal of Clinical Cases》 SCIE 2018年第14期786-790,共5页
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 electro... 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. 展开更多
关键词 Electron transfer flavoprotein-a mutation Newborn screening Glutaric acidemia type Inborn error of metabolism Ketone bodies Case report
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