Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update.

doi:10.1016/j.jpeds.2009.06.017

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Article

Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update.

The Journal of pediatrics - 1 Dec 2009

Bergmann Anke K, Sahai Inderneel, Falcone Jill F, Fleming Judy, Bagg Adam, Borgna-Pignati Caterina, Casey Robin, Fabris Luca, Hexner Elizabeth, Mathews Lulu, Ribeiro Maria Leticia, Wierenga Klaas J, Neufeld Ellis J

Abstract excerpt

OBJECTIVE: To determine causative mutations and clinical status of 7 previously unreported kindreds with TRMA syndrome, (thiamine-responsive megaloblastic anemia, online Mendelian inheritance in man, no. 249270), a recessive disorder of thiamine transporter Slc19A2. STUDY DESIGN: Genomic DNA was purified from blood, and SLC19A2 mutations were characterized by sequencing polymerase chain reaction-amplified coding...

Topics

Adult
Anemia, Megaloblastic
Child
Child, Preschool
Cohort Studies
Deafness
Diabetes Mellitus
Female
Heterozygote
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infant

Male

Membrane Transport Proteins

Mutation

Phenotype

Thiamine

Vitamin B Complex

Source

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Identifiers

PMID: 19643445
DOI: 10.1016/j.jpeds.2009.06.017
PMCID: PMC2858590

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