Saral NY, Aksungar FB, Aktuglu-Zeybek C, Coskun J, Demirelce O, Serteser M. Glutaric acidemia type II patient with thalassemia minor and novel electron transfer flavoprotein-A gene mutations: A case report and review of literature. World J Clin Cases 2018; 6(14): 786-790 [PMID: 30510944 DOI: 10.12998/wjcc.v6.i14.786]
Corresponding Author of This Article
Neslihan Yildirim Saral, MD, Doctor, Department of Clinical Biochemistry and Metabolism, Acibadem Labmed Clinical Laboratories, Kayısdagı Caddesi, No 32, B Blok Atasehir, Istanbul 34752, Turkey. neslihan.saral@acibademlabmed.com.tr
Research Domain of This Article
Endocrinology & Metabolism
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Clin Cases. Nov 26, 2018; 6(14): 786-790 Published online Nov 26, 2018. doi: 10.12998/wjcc.v6.i14.786
Glutaric acidemia type II patient with thalassemia minor and novel electron transfer flavoprotein-A gene mutations: A case report and review of literature
Neslihan Yildirim Saral, Fehime Benli Aksungar, Julide Coskun, Ozlem Demirelce, Mustafa Serteser, Department of Clinical Biochemistry and Metabolism, Acibadem Labmed Clinical Laboratories, Istanbul 34752, Turkey
Fehime Benli Aksungar, Mustafa Serteser, Department of Medical Biochemistry, School of Medicine, Acibadem University, Istanbul 34752, Turkey
Cigdem Aktuglu-Zeybek, Department of Pediatric Metabolic Diseases, Cerrahpasa School of Medicine, Istanbul University, Istanbul 34098, Turkey
Author contributions: Saral NY, Aksungar FB, Aktuglu-Zeybek C and Coskun J conceived and gathered data for the case report; Aktuglu-Zeybek C obtained written informed consent from the patient; Demirelce O and Serteser M were involved in literature search and data analysis; Saral NY and Aksungar FB wrote the manuscript; all authors reviewed and edited the manuscript and approved the final version of the manuscript.
Institutional review board statement: Acıbadem University School of Medicine, Acıbadem Hospitals Review Board approved the case for publication.
Informed consent statement: Written informed consent from the patient was obtained in the clinic.
Conflict-of-interest statement: All the authors have no conflicts of interests to declare.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Correspondence to: Neslihan Yildirim Saral, MD, Doctor, Department of Clinical Biochemistry and Metabolism, Acibadem Labmed Clinical Laboratories, Kayısdagı Caddesi, No 32, B Blok Atasehir, Istanbul 34752, Turkey. neslihan.saral@acibademlabmed.com.tr
Telephone: +90-532-3419036 Fax: +90-216-5004772
Received: August 15, 2018 Peer-review started: August 17, 2018 First decision: September 11, 2018 Revised: October 10, 2018 Accepted: October 12, 2018 Article in press: October 11, 2018 Published online: November 26, 2018 Processing time: 103 Days and 16.4 Hours
Abstract
Glutaric acidemia type II (GAII), also known as multiple acyl-CoA dehydrogenase deficiency, is an autosomal 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 hypotonicity on the postnatal first day. Laboratory investigations revealed elevations of multiple acyl carnitines indicating glutaric acidemia type II in newborn screening analysis. Urinary organic acids were evaluated for the confirmation 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, riboflavin, coenzyme Q10, and ketone supplementation in addition to a high carbohydrate diet. Although the patient had comorbidity like thalassemia minor, her neuromotor development was normal for her age and had no major health problems. This specific case expands the previously reported spectrum of this disease.
Core tip: Multiple acyl-CoA dehydrogenase deficiency (GAII) is an autosomal 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. Genetic analysis revealed two novel mutations in the ETF-A gene, which are considered to be the etiology for the disease. Most neonatal-onset patients of GAII may not survive due to progressive deterioration despite aggressive treatment. However, at 8 mo of age our patient, with the experimentally added ketone therapy, had no major health problems, and neuromotor development was normal for her age. The present case report is the only one reporting a patient with both GAII and thalassemia minor.
