Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Methylmalonic aciduria and homocystinuria cblF

Methylmalonic aciduria and homocystinuria cblF is an autosomal recessive disturbance of cobalamin metabolism which is caused by stations of the LMBRD1 gene.

Systematic

Disorders of cobalamin metabolism
Classical homocysteinuria
Homocystinuria-megaloblastic anemia cblE
Homocystinuria-megaloblastic anemia cblG
Methylmalonic aciduria and homocystinuria cblC
Methylmalonic aciduria and homocystinuria cblD
Methylmalonic aciduria and homocystinuria cblF
LMBRD1
Methylmalonic aciduria and homocystinuria cblJ
Methylmalonic aciduria cblA
Methylmalonic aciduria cblB
Methylmalonic aciduria type mut

References:

1.

Rutsch F et al. (2009) Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism.

[^]
2.

Vassiliadis A et al. (1991) Lysosomal cobalamin accumulation in fibroblasts from a patient with an inborn error of cobalamin metabolism (cblF complementation group): visualization by electron microscope radioautography.

[^]
3.

Shih VE et al. (1989) Defective lysosomal release of vitamin B12 (cb1F): a hereditary cobalamin metabolic disorder associated with sudden death.

[^]
4.

Rosenblatt DS et al. (1986) New disorder of vitamin B12 metabolism (cobalamin F) presenting as methylmalonic aciduria.

[^]
5.

Watkins D et al. (1986) Failure of lysosomal release of vitamin B12: a new complementation group causing methylmalonic aciduria (cblF).

[^]
6.

Rosenblatt DS et al. (1985) Defect in vitamin B12 release from lysosomes: newly described inborn error of vitamin B12 metabolism.

[^]
7.

Alfadhel M et al. (2011) Eighteen-year follow-up of a patient with cobalamin F disease (cblF): report and review.

[^]
8.

OMIM.ORG article

Omim 277380 [^]
Update: April 29, 2019