First 2 cases with thiamine‐responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene—intron 1 mutation c.204+2T>G

Thiamine‐responsive megaloblastic anemia (TRMA) is a rare autosomal recessive disorder caused by mutations in the SLC19A2 gene. To date at least 43 mutations have been reported for the gene encoding a plasma membrane thiamine transporter protein (THTR‐1). TRMA has been reported in less than 80 cases...

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Bibliographic Details
Published in:Pediatric diabetes 2017-12, Vol.18 (8), p.844-847
Main Authors: Pomahačová, Renata, Zamboryová, Jana, Sýkora, Josef, Paterová, Petra, Fiklík, Karel, Votava, Tomáš, Černá, Zdeňka, Jehlička, Petr, Lád, Václav, Šubrt, Ivan, Dort, Jiří, Dortová, Eva
Format: Article
Language:English
Subjects:
Anemia
Anemia, Megaloblastic - genetics
Child, Preschool
Czech Republic
Diabetes
Diabetes mellitus
Diabetes Mellitus - genetics
Diabetic ketoacidosis
Dystrophy
Female
Hearing loss
Hearing Loss, Sensorineural - genetics
Hereditary diseases
Heterozygotes
Humans
Infant
Ketoacidosis
Membrane proteins
Membrane Transport Proteins - genetics
Mutation
Protein transport
sensorineural deafness
SLC19A2 gene
Supplements
Thiamine
Thiamine Deficiency - congenital
Thiamine Deficiency - genetics
Thiamine transporter
thiamine‐responsive megaloblastic anemia
Vitamin B
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Summary:Thiamine‐responsive megaloblastic anemia (TRMA) is a rare autosomal recessive disorder caused by mutations in the SLC19A2 gene. To date at least 43 mutations have been reported for the gene encoding a plasma membrane thiamine transporter protein (THTR‐1). TRMA has been reported in less than 80 cases worldwide. Here, we illustrate 2 female patients with TRMA first diagnosed in the Czech Republic and in central Europe being confirmed by sequencing of the THTR‐1 gene SLC19A2. Both subjects are compound heterozygotes with 3 different mutations in the SLC19A2 gene. In case 2, the SLC19A2 intron 1 mutation c.204+2T>G has never been reported before. TRMA subjects are at risk of diabetic ketoacidosis during intercurrent disease and arrythmias. Thiamine supplementation has prevented hematological disorders over a few years in both pediatric subjects, and improved glycaemic control of diabetes mellitus. Patient 1 was suffering from hearing loss and rod‐cone dystrophy at the time of diagnosis, however, she was unresponsive to thiamine substitution. Our patient 2 developed the hearing loss despite the early thiamine substitution, however no visual disorder had developed. The novel mutation described here extends the list of SLC19A2 mutations causing TRMA.
ISSN:1399-543X
1399-5448
DOI:10.1111/pedi.12479