Megaloblastic anaemia, diabetes and deafness in a 2-year-old child [1]

South African Medical Journal

Volumn 95, Issue 9, 2005, Pages 624-

  Davidson, Alan ^a   Hartley, Patricia S ^a   Berman, Peter ^b   Shuttleworth, Margaret H G ^a  

^a UNIVERSITY OF CAPE TOWN   (South Africa)

^b UNIVERSITY OF CAPE TOWN   (South Africa)

Author keywords

[No Author keywords available]

Indexed keywords

HEMOGLOBIN; INSULIN; THIAMINE;

BLOOD SMEAR; BONE MARROW BIOPSY; CASE REPORT; CELL HYPERPLASIA; CELL SHAPE; CELL VOLUME; CHILDHOOD DISEASE; DIABETES MELLITUS; DIABETIC KETOACIDOSIS; DYSPLASIA; ERYTHROID CELL; FEMALE; HEARING AID; HUMAN; HUMAN CELL; HUMAN TISSUE; LETTER; MEGALOBLASTIC ANEMIA; PERCEPTION DEAFNESS; PRESCHOOL CHILD; RETICULOCYTE COUNT; RETICULOCYTOSIS;

ANEMIA, MEGALOBLASTIC; CHILD, PRESCHOOL; DEAFNESS; DIABETES MELLITUS, TYPE 1; FEMALE; HUMANS; THIAMINE;

EID: 26644472667     PISSN: 02569574     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (4)

1. Thiamine-Responsive Megaloblastic Syndrome; TRMA. http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=249270 (last accessed 29 December 2004).
2. Stagg AR, Fleming JC, Baker MA, Sakamoto M, Cohen N, Neufeld EJ. Defective high-affinity thiamine transporter leads to cell death in thiamine-responsive megaloblastic anaemia syndrome fibroblasts. J Clin Invest 1999; 103: 723-729.
3. Fleming JC, Tartaglini E, Steinkamp MP, Schorderet DF, Cohen N, Neufeld EJ. The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter. Nat Genet 1999; 22: 305-308.
4. Diaz GA, Banikazemi M, Oishi K, Desnick RJ, Gelb BD. Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome. Nat Genet 1999; 22: 309-312.