Very long-term outcomes in 23 patients with cblA type methylmalonic acidemia.
Cécilia Marelli-TosiAlain FouilhouxJean-Francois BenoistPascale De LonlayNathalie Guffon-FouilhouxAnais BrassierAline CanoBrigitte ChabrolAlessandra PennisiManuel SchiffCecile AcquavivaElaine MurphyAude ServaisRobin LachmannPublished in: Journal of inherited metabolic disease (2022)
We provide a detailed picture of the long-term outcome of a series of adult cblA patients, mostly diagnosed before the enzymatic and molecular era. We confirm that about 35% of the patients do not present acutely, underlining the importance of measuring MMA in any case of unexplained chronic renal failure, intellectual disability, or growth delay. In addition, we describe a patient with a milder adult-onset form. Early B12 supplementation seems to protect from severe renal insufficiency.