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Thiamine-Responsive Megaloblastic Anemia Syndrome: A Rare Syndromic Cause of Diabetes in Childhood

Indian Pediatrics
R. M. Dinesh Babu, G. S. Naresh Kanna, Muthu Meera, S. Ashwath   +3 more
openaire   +2 more sources

Precision diagnosis and treatment of vitamin metabolism-related epilepsy. [PDF]

Acta Epileptol
Gan Y, Li G, Wei Z, Feng Y, Shi Y, Deng Y.   +5 more
europepmc   +1 more source

Children With Diabetes and At Least One Non-Autoimmune Feature Should Be Considered for Monogenic Diabetes Testing.

J Clin Endocrinol Metab
Myers R, Yildiz M, Nuri Ozbek M, Manzoor J, Ibrahim M, Yajnik C, Atar M, Şiklar Z, Acar S, Globa E, Magdy Omar O, Demirbilek H, Hassan S, Demir K, Hanif M, Guran T, Hatipoglu N, Koçyiğit C, Colclough K, Houghton J, Hattersley A, Van Heugten R, Patel K, Monogenic Diabetes Consortium.   +23 more
europepmc   +1 more source

Thiamine-Responsive Megaloblastic Anemia Syndrome

International Journal of Hematology, 2010
Thiamine-responsive megaloblastic anemia (TRMA) syndrome usually associated with diabetes mellitus, anemia and deafness, due to mutations in SLC19A2, encoding a thiamine transporter protein. The onset of disease is usually seen during infancy or at early childhood and most of the TRMA patients are originated from consanguineous families.
Mehmet Keskin, Hatice Uygun, Ali Bay
exaly   +6 more sources

Thiamine-Responsive Megaloblastic Anemia Syndrome: Long Term Follow-Up

Journal of Pediatrics, 2009
Thiamine-responsive megaloblastic anemia is a rare autosomal recessive disorder whose main symptoms are anemia, diabetes mellitus, and sensorineural deafness. We describe a 20-year follow-up of 2 previously reported patients and of 1 patient diagnosed before onset of symptoms and treated with thiamine since the first sign of disease.
Caterina Borgna-Pignatti
exaly   +4 more sources

A Novel Mutation in the SLC19A2 Gene in a Turkish Female With Thiamine-Responsive Megaloblastic Anemia Syndrome.

Journal of Tropical Pediatrics, 2009
Reported here is a 2-year-old girl who was diagnosed to have thiamine-responsive megaloblastic anemia during evaluations for her bilateral neurosensorial deafness. Besides reporting a new mutation on the gene SLC19A2 for the first time in the literature,
Zühre Kaya, Ediz Yeşilkaya, Altuğ Koç   +2 more
exaly   +2 more sources

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Cardiac Manifestations in Thiamine-Responsive Megaloblastic Anemia Syndrome

Pediatric Cardiology, 2003
Thiamine-responsive megaloblastic anemia (TRMA) syndrome is a rare autosomal recessive disorder defined by the occurrence of megaloblastic anemia, diabetes mellitus, and sensorineural deafness, responding in varying degrees to thiamine treatment. Other features of this syndrome gradually develop.
Hanna Mandel, Avihu Gazit, A Lorber
exaly   +3 more sources