Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Methylmalonic aciduria cblA

Methylmalonic aciduria cblA is an autosomal recessive disturbance of cobalamin metabolism which is caused by stations of the MMAA 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
Methylmalonic aciduria cblA
MMAA
Methylmalonic aciduria cblB
Methylmalonic aciduria type mut

References:

1.

Dobson CM et. al. (2002) Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements.

[^]
2.

Mahoney MJ et. al. (1975) Methylmalonicacidemia: biochemical heterogeneity in defects of 5'-deoxyadenosylcobalamin synthesis.

[^]
3.

Gravel RA et. al. (1975) Genetic complementation in heterokaryons of human fibroblasts defective in cobalamin metabolism.

[^]
4.

Wilcken B et. al. (1977) Methylmalonic aciduria: a variant form of methylmalonyl coenzyme A apomutase deficiency.

[^]
5.

Ampola MG et. al. (1975) Prenatal therapy of a patient with vitamin-B12-responsive methylmalonic acidemia.

[^]
6.

Rosenberg LE et. al. (1969) Vitamin B12 dependent methylmalonicaciduria: defective B12 metabolism in cultured fibroblasts.

[^]
7.

Rosenberg LE et. al. (1968) Methylmalonic aciduria. An inborn error leading to metabolic acidosis, long-chain ketonuria and intermittent hyperglycinemia.

[^]
8.

Rosenberg LE et. al. (1968) Methylmalonic aciduria: metabolic block localization and vitamin B 12 dependency.

[^]
9.

Matsui SM et. al. (1983) The natural history of the inherited methylmalonic acidemias.

[^]
Update: Sept. 26, 2018