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thiamine-responsive megaloblastic anemia syndrome (Rodgers syndrome)
Genetics:
- autosomal recessive
- defect in thiamine transporter 1 (SLC19A2)
Clinical manifestations:
1) megaloblastic anemia
2) diabetes mellitus
3) sensorineural deafness
Laboratory:
1) complete blood count
a) anemia
b) macrocytosis
c) mild thrombocytopenia
c) mild leukopenia
2) serum glucose: hyperglycemia
Related
thiamine (vitamin B1) deficiency
General
megaloblastic anemia
inborn error of metabolism
Database Correlations
OMIM 249270
References
OMIM :accession 249270