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Permanent URI for this collectionhttps://hdl.handle.net/11443/932

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Author: search.filters.author.Serteser, MustafaSubject: search.filters.subject.Newborn screening

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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
    (BAISHIDENG PUBLISHING GROUP INC, 2018-01-01) Saral, Neslihan Yildirim; Aksungar, Fehime Benli; Aktuglu-Zeybek, Cigdem; Coskun, Julide; Demirelce, Ozlem; Serteser, Mustafa
    Glutaric acidemia type II (GA II), also known as multiple acyl-CoA dehydrogenase deficiency, is an auto-somal recessive inborn error of amino acid and fatty acid metabolism. We report a case of GA. 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.
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    Easy method for newborn screening of six lysosomal storage disorders using online solid-phase extraction with mass spectrometry
    (WALTER DE GRUYTER GMBH, 2016-01-01) Serdar, Muhittin; Lay, Incilay; Coskun, Julide; Aslan, Berna; Aslan, Huseyin; Coskun, Abdurrahman; Serteser, Mustafa; Unsal, Ibrahim; Ozpinar, Aysel
    Objective: A modified method for screening of six lysosomal storage disorders (LSDs) by tandem mass spectrometry was presented. Methods: The enzyme activities for six LSDs (Gaucher, Pompe, Krabbe, Fabry, Niemann-Pick A/B and Mucopolysaccharidosis Type I) was measured by using ultra-HPLC and mass spectrometry. After overnight incubation of dried blood spots with three distinct reaction cocktails containing substrates and internal standards, reactions were stopped and online trapping was performed with ultra-HPLC preceding to mass spectrometry. Ultra-HPLC was equipped with online solid phase extraction and Hypersil Gold C8 analytical columns and coupled with TSQ Quantum Access Max mass spectrometry. Results: Activities of acid-ss-glucocerebrosidase (ABG), acid glucosidase (GAA), galactocerebroside-ss-galactosidase (GALC), acid-galactosidase A (GLA), acid sphingomyelinase (ASM), and alpha-L-iduronidase (IDU) were obtained from DBSs of patients and healthy individuals. The intra- and inter-assay precisions were <20\% (CV). Conclusion: Our modified method, needing less DBS punches and only three reaction coctails, with the online trapping methodology, accurately differentiates newborns with LSDs from healthy newborns.