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
ARTICLE HIGHLIGHTS
Case characteristics
An episode of hypoglycemia and hypotonicity occurred on the postnatal first day, and the patient was admitted to neonatal intensive care unit.
Clinical diagnosis
Patient’s general condition was good. No abnormality was identified during the physical examination.
Differential diagnosis
Metabolic diseases were investigated with tandem mass spectrometry.
Laboratory diagnosis
Tandem mass spectrometry, high pressure liquid chromatography, and mass spectrometry measurements in newborn screening enabled us to diagnose the patient very early.
Imaging diagnosis
Cranial Doppler ultrasonography (USG) and cranial magnetic resonance findings were normal, and there were no pathologic findings aside from minimal hepatomegaly in the liver.
Treatment
Patient was treated with carnitine, riboflavin, Coenzyme Q10, and ketone treatment in addition to a high carbohydrate diet.
Related reports
Glutaric academia type II (GAII) was first described in 1976 and is estimated to have a prevalence of 1/200000 live births. There are a few case reports describing the neonatal-onset form of the disease in the literature since the life-expectancy is short. There are also some cases reports describing adult-onset forms, which are mild with the patients living until adulthood.
Term explanation
Tandem mass spectrometer: High pressure liquid chromatography and mass spectrometry.
Experiences and lessons
Expanded new born screening by tandem mass spectrometry has made it possible to detect GAII in this particular patient and enabled us to make early interventions for the patient. Moreover ketone treatment seems to be advantageous in GAII patients, particularly in cases with comorbidities.
