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Definition

A metabolic disorder characterized by increased blood C3-acylcarnitine levels, elevated methylmalonate and homocysteine, and low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin.

Acronym

MMATC

Synonyms

Methylmalonic acidemia TCblR type
Methylmalonic aciduria due to transcobalamin receptor defect
Methylmalonic aciduria type TCblR

 
Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.

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Main funding by: National Institutes of Health