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Summary
HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY
618660
OMIM = Online Medalian Inheritance of Men
90030
8p12
rare
autosomal recessive
mutation in the GSR gene
symptoms
anemia
cataract
hemolytic anemia
jaundice
onset, childhood
laboratory finding
Hemoglobine g/dlblood
Literature
Carroll CJ,et al.Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathyJ Med Genet5036151-1592013
Yeo JH,et al.A Role for the Mitochondrial Protein Mrpl44 in Maintaining OXPHOS CapacityPLoS One107e01343262015
Distelmaier F,et al.MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathyNeurogenetics164319-3232015