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Summary
TRANSCOBALAMIN I DEFICIENCY
TCN1 DEFICIENCY
193090
OMIM = Online Medalian Inheritance of Men
2967
11q12.1
rare
autosomal recessive
symptoms
no consistent clinical signs or symptoms
laboratory finding
Homocystine normalplasma
Vitamin B12 decreasedserum
Literature
Shrimal S,et al.Mutations in STT3A and STT3B cause two congenital disorders of glycosylationHum Mol Genet22224638-46452013
Balasubramaniam S,et al.Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiencyJ Inherit Metab Dis002017