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:
Related Diseases:
References:
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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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3. |
Orphanet article
Orphanet ID 123294
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4. |
NCBI article
NCBI 166785
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5. |
OMIM.ORG article
Omim 607481
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6. |
Wikipedia article
Wikipedia EN (MMAA)
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Update: Aug. 14, 2020