Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Methylmalonic aciduria and homocystinuria cblJ

Methylmalonic aciduria and homocystinuria cblJ is an autosomal recessive disturbance of cobalamin metabolism which is caused by stations of the ABCD4 gene.

Systematic

Disorders of cobalamin metabolism
Homocystinuria-megaloblastic anemia cblE
Homocystinuria-megaloblastic anemia cblG
Methylmalonic aciduria and homocystinuria cblC
Methylmalonic aciduria and homocystinuria cblD
Methylmalonic aciduria and homocystinuria cblF
Methylmalonic aciduria and homocystinuria cblJ
ABCD4
Methylmalonic aciduria cblA
Methylmalonic aciduria cblB
Methylmalonic aciduria type mut

References:

1.

Coelho D et. al. (2012) Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.

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Update: Sept. 26, 2018