Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Mitochondrial methylmalonic aciduria type A protein

The MMADHC gene encodes a mitochondrial transport protein involved in cobalamin transport. Mutations cause autosomal recessive methylmalonic aciduria cblA.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Methylmalonic aciduria cblA
MMAA

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.

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2.

Lerner-Ellis JP et. al. (2004) Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism.

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Update: Sept. 26, 2018