Thiamine responsive megaloblastic anemia

Indian Pediatrics

Volumn 46, Issue 2, 2009, Pages 172-174

  Mathews, Lulu ^a   Narayanadas, K ^a   Sunil, G ^a  

^a GOVERNMENT MEDICAL COLLEGE   (India)

Author keywords

Megaloblastic anemia; Rogers syndrome; Thiamine

Indexed keywords

GLUCOSE; INSULIN ZINC SUSPENSION; PYRIDOXINE; THIAMINE; VITAMIN B COMPLEX;

ANEMIA; ARTICLE; BLOOD ANALYSIS; BLOOD TRANSFUSION; CASE REPORT; CHILD; CLINICAL FEATURE; DIABETES MELLITUS; DRUG MEGADOSE; DRUG RESPONSE; DRUG WITHDRAWAL; ECHOGRAPHY; FEMALE; GENE MUTATION; GLUCOSE BLOOD LEVEL; HEPATOMEGALY; HUMAN; IRON BINDING CAPACITY; KEARNS SAYRE SYNDROME; MEGALOBLASTIC ANEMIA; NYSTAGMUS; PERCEPTION DEAFNESS; REFRACTORY ANEMIA; RETINITIS PIGMENTOSA; SCHOOL CHILD; THIAMINE RESPONSIVE MEGALOBLASTIC ANEMIA; TREATMENT RESPONSE;

ANEMIA, MEGALOBLASTIC; CHILD; COMORBIDITY; DIABETES MELLITUS; FEMALE; HEARING LOSS, SENSORINEURAL; HUMANS; MEMBRANE TRANSPORT PROTEINS; RETINITIS PIGMENTOSA; THIAMINE; VITAMIN B COMPLEX;

EID: 60849098741     PISSN: 00196061     EISSN: 00196061     Source Type: Journal    
DOI: None     Document Type: Article

References (7)

1. Rogers LE, Porter FS, Sidubry JB. Thiamine responsive megaloblastic anemia. J Pediatr 1969; 74: 494-504.
2. Lagrade WH, Underwood LE, Moats - Staats BM, Calikoglu AS. Noval mutation in the SLC 19 A2 gene in an African-American female with thiamine-responsive megaloblastic anemia Syndrome. Am J Hum Gene 2004; 125 A: 299-305.
3. Oishi K, Hofmann S, Diaz GA, Brown T, Manwani D, Ng L, et al. Targeted disruption of Slc19a2, the gene encoding the high affinity thiamine transporter Thtr-1, causes diabetes mellitus, sensorineural deafness and megaloblastosis in mice. Hum Molec Genet 2002; 11: 2951-2960.
4. Scharfe C, Hauschild M, Klopstock T, Janssen AJM, Heidemann PH, MeitingerT, et al. A novel mutation in the thiamine responsive megaloblastic anemia gene SLC 19A2 gene in a patient with deficiency of respiratory chain complex. J Med Genet 2000; 37: 669-673.
5. Bappal B, Nair R, Shaikh H. Five year follow up of diabetes mellitus in 2 siblings with thiamine responsive megaloblastic anemia. Indian Pediatr 2001; 28: 1295-1298.
6. Neufeld EJ, Mandel H, Raz T, Szargel R, Yandava CN, Stagg A, et al. Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homo-zygosity mapping. Am J Hum Genet 1997; 61: 1335-1341.
7. Labay V, Raz T, Baron D, Mandel H, Williams H, Barrett T, et al. Mutations in SLC 19 A 2 causes thiamine responsive megaloblastic anemia associated with diabetes mellitus and deafness. Nature Genet 1999; 22: 305-308.