Visit Metagene.de!
Summary
TRANSCOBALAMIN I DEFICIENCY
TCN1 DEFICIENCY
193090
OMIM = Online Medalian Inheritance of Men
2967
11q12.1
rare (<20 cases)
autosomal recessive
symptoms
no consistent clinical signs or symptoms
onset, adulthood
laboratory finding
L-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