Irritable Bowel Disease: Think Malonic and Methylmalonic Aciduria (CMAMMA)!
Combined malonic and methylmalonic aciduria (CMAMMA; OMIM 614265) is a rare disorder of mitochondrial fatty acid synthesis caused by pathogenic variants in the ACSF3 gene, which encodes malonyl‐CoA synthetase. The clinical presentation is highly heterogeneous and may include seizures, memory impairment, psychiatric man...