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Summary
ATRANSFERRINEMIA
HYPOTRANSFERRINEMIA, FAMILIAL
209300
OMIM = Online Medalian Inheritance of Men
1195
3q22.1
very rare
autosomal recessive
mutation in the transferrin gene
symptoms
anemia
growth retardation
heart failure
hemosiderosis
infections (severe or recurrent)
onset, childhood
onset, infancy
laboratory finding
Transferrin decreasedserum
Iron increasedliveradolescence
Literature
Darin N,et al.Genotypes and clinical phenotypes in children with cytochrome-c oxidase deficiencyNeuropediatrics346311-3172003
Di Pierro E,Brancaleoni V, Granata FAdvances in understanding the pathogenesis of congenital erythropoietic porphyriaBr J Haematol1733365-3792016
Christiansen AL,et al.Cutaneous Porphyrias: Causes, Symptoms, Treatments and the Danish Incidence 1988-2013Acta Derm Venereol967868-8722016
Boczonadi V,Bansagi B, Horvath RReversible infantile mitochondrial diseasesJ Inherit Metab Dis383427-4352015
Fassone E,Rahman SComplex I deficiency: clinical features, biochemistry and molecular geneticsJ Med Genet499578-5902012
Lin BY,Kao MCTherapeutic applications of the TAT-mediated protein transduction system for complex I deficiency and other mitochondrial diseasesAnn N Y Acad Sci1350017-282015
Karim Z,et al.Porphyrias: A 2015 updateClin Res Hepatol Gastroenterol394412-4252015