İzole sülfit oksidaz eksikliği: SUOX geninde homozigot p.Gly362Ser varyantı saptanan 10 aylık bir olgu

Sevgi Doğan; Gizem Gökçe Altaş; Sümeyya Duran Kaymak; Mustafa Kılıç

doi:10.19161/etd.1807914

EN TR

Isolated sulfite oxidase deficiency: A 10-month-old patient with a homozygous p.Gly362Ser variant in the SUOX gene

Abstract

Isolated sulfite oxidase deficiency is a rare neurometabolic disorder caused by biallelic pathogenic variants in the SUOX gene and is characterized by severe neurological involvement. A 10-month-old boy was evaluated because of microcephaly, epilepsy, cerebral palsy, and a history of sibling death. Physical examination revealed developmental delay, axial hypotonia, and peripheral spasticity. Brain magnetic resonance imaging demonstrated diffuse cerebral atrophy, corpus callosum agenesis, ventriculomegaly, and periventricular cystic changes. Clinical exome sequencing identified a homozygous SUOX c.1084G>A (p.Gly362Ser) pathogenic variant, confirming the diagnosis of isolated sulfite oxidase deficiency. Previously reported Turkish patients were also reviewed with respect to their clinical, radiological, and genetic findings. ISOD should be considered in infants presenting with early-onset seizures, progressive encephalopathy, characteristic neuroimaging findings and early molecular genetic testing is essential for establishing the diagnosis.

Keywords

İzole sülfit oksidaz eksikliği: SUOX geninde homozigot p.Gly362Ser varyantı saptanan 10 aylık bir olgu

Abstract

İzole sülfit oksidaz eksikliği, SUOX genindeki bialelik patojenik varyantlara bağlı gelişen, ağır nörolojik tutulumla seyreden nadir bir nörometabolik hastalıktır. On aylık erkek hasta, mikrosefali, epilepsi, serebral palsi ve kardeş ölüm öyküsü nedeniyle metabolik açıdan değerlendirildi. Fizik muayenesinde gelişim geriliği, aksiyel hipotoni ve periferik spastisite saptandı. Beyin manyetik rezonans görüntülemesinde yaygın serebral atrofi, korpus kallozum agenezisi, ventrikülomegali ve periventriküler kistik değişiklikler izlendi. Klinik ekzom dizilemesinde SUOX geninde homozigot c.1084G>A (p.Gly362Ser) patojenik varyant gösterilerek izole sülfit oksidaz eksikliği tanısı doğrulandı. Ayrıca literatürde bildirilen Türk kökenli olgular klinik, radyolojik ve genetik özellikleri açısından gözden geçirildi. Erken başlangıçlı nöbetler, ilerleyici ensefalopati ve karakteristik nörogörüntüleme bulguları bulunan hastalarda izole sülfit oksidaz eksikliği ayırıcı tanıda düşünülmeli ve erken moleküler genetik inceleme yapılmalıdır.

Keywords

References

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Details

Primary Language

Turkish

Subjects

Clinical Sciences (Other)

Journal Section

Case Report

Authors

Sevgi Doğan ^*
0000-0003-4412-6732
Türkiye

Gizem Gökçe Altaş
0009-0003-0147-3811
Türkiye

Sümeyya Duran Kaymak
0000-0003-0593-1202
Türkiye

Mustafa Kılıç
0000-0002-1401-5233
Türkiye

Publication Date

September 3, 2026

Submission Date

October 22, 2025

Acceptance Date

March 26, 2026

Published in Issue

Year 2026 Volume: 65 Number: 3

DOI

https://doi.org/10.19161/etd.1807914

IZ

https://izlik.org/JA42CH75KU

Cite

RIS / Bibtex

APA

Doğan, S., Altaş, G. G., Duran Kaymak, S., & Kılıç, M. (2026). İzole sülfit oksidaz eksikliği: SUOX geninde homozigot p.Gly362Ser varyantı saptanan 10 aylık bir olgu. Ege Tıp Dergisi, 65(3), 596-602. https://doi.org/10.19161/etd.1807914

AMA

1.Doğan S, Altaş GG, Duran Kaymak S, Kılıç M. İzole sülfit oksidaz eksikliği: SUOX geninde homozigot p.Gly362Ser varyantı saptanan 10 aylık bir olgu. EJM. 2026;65(3):596-602. doi:10.19161/etd.1807914

Chicago

Doğan, Sevgi, Gizem Gökçe Altaş, Sümeyya Duran Kaymak, and Mustafa Kılıç. 2026. “İzole Sülfit Oksidaz Eksikliği: SUOX Geninde Homozigot P.Gly362Ser Varyantı Saptanan 10 Aylık Bir Olgu”. Ege Tıp Dergisi 65 (3): 596-602. https://doi.org/10.19161/etd.1807914.

EndNote

Doğan S, Altaş GG, Duran Kaymak S, Kılıç M (September 1, 2026) İzole sülfit oksidaz eksikliği: SUOX geninde homozigot p.Gly362Ser varyantı saptanan 10 aylık bir olgu. Ege Tıp Dergisi 65 3 596–602.

IEEE

[1]S. Doğan, G. G. Altaş, S. Duran Kaymak, and M. Kılıç, “İzole sülfit oksidaz eksikliği: SUOX geninde homozigot p.Gly362Ser varyantı saptanan 10 aylık bir olgu”, EJM, vol. 65, no. 3, pp. 596–602, Sept. 2026, doi: 10.19161/etd.1807914.

ISNAD

Doğan, Sevgi - Altaş, Gizem Gökçe - Duran Kaymak, Sümeyya - Kılıç, Mustafa. “İzole Sülfit Oksidaz Eksikliği: SUOX Geninde Homozigot P.Gly362Ser Varyantı Saptanan 10 Aylık Bir Olgu”. Ege Tıp Dergisi 65/3 (September 1, 2026): 596-602. https://doi.org/10.19161/etd.1807914.

JAMA

1.Doğan S, Altaş GG, Duran Kaymak S, Kılıç M. İzole sülfit oksidaz eksikliği: SUOX geninde homozigot p.Gly362Ser varyantı saptanan 10 aylık bir olgu. EJM. 2026;65:596–602.

MLA

Doğan, Sevgi, et al. “İzole Sülfit Oksidaz Eksikliği: SUOX Geninde Homozigot P.Gly362Ser Varyantı Saptanan 10 Aylık Bir Olgu”. Ege Tıp Dergisi, vol. 65, no. 3, Sept. 2026, pp. 596-02, doi:10.19161/etd.1807914.

Vancouver

1.Sevgi Doğan, Gizem Gökçe Altaş, Sümeyya Duran Kaymak, Mustafa Kılıç. İzole sülfit oksidaz eksikliği: SUOX geninde homozigot p.Gly362Ser varyantı saptanan 10 aylık bir olgu. EJM. 2026 Sep. 1;65(3):596-602. doi:10.19161/etd.1807914