Thiamine-responsive megaloblastic anemia (TRMA) in an Austrian boy with compound heterozygous SLC19A2 mutations.

European Journal of Pediatrics
Herbert PichlerLeo Kager

Abstract

Thiamine-responsive megaloblastic anemia (TRMA) is a rare disorder typically characterized by megaloblastic anemia, non-type I diabetes and sensorineural deafness. It is caused by various mutations in the SLC19A2 gene that impair the encoded thiamine transporter. So far, only 70 affected individuals mainly from consanguineous families of Middle and Far Eastern origin with a wide spectrum of signs and symptoms, variable onset of disease, and primarily homozygote mutations in SLC19A2 have been reported. We present the first genuine central European descendent with combined heterozygote mutations in SLC19A2, an Austrian boy suffering from pancytopenia and non-type I diabetes. Both manifestations resolved completely under continuous oral thiamine supplementation. Our observation underlines that despite its rarity, TRMA must be considered as an important differential diagnosis in native central European patients with suggestive signs and symptoms. An early molecular genetic verification of the diagnosis provides a sound basis for a successful and simple treatment that helps to prevent severe sequelae.

References

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Jul 22, 2009·The Journal of Pediatrics·Caterina Borgna-PignattiStefania Pedretti

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Citations

Dec 28, 2012·Journal of Virology·Ramon MendozaJulie Overbaugh
Feb 24, 2015·American Journal of Medical Genetics. Part a·Violeta MikstieneAlgirdas Utkus
Apr 17, 2015·International Journal of Pediatric Endocrinology·Sophia TahirKhalid Hussain
May 19, 2016·Expert Review of Neurotherapeutics·Juan Darío Ortigoza-EscobarBelén Pérez-Dueñas
Jun 16, 2018·BMJ Case Reports·Virginie MoulinHenri Lu
May 30, 2019·International Journal of Molecular Sciences·Huseyin DemirbilekKhalid Hussain
Feb 12, 2021·Clinica Chimica Acta; International Journal of Clinical Chemistry·Shule ZhangGuimei Li

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