Article
Absence of MMACHC in peripheral retinal cells does not lead to an ocular phenotype in mice.
Biochimica et biophysica acta. Molecular basis of disease - 1 Oct 2021
Kiessling Eva, Nötzli Sarah, Todorova Vyara, Forny Merima, Baumgartner Matthias R, Samardzija Marijana, Krijt Jakub, Kožich Viktor, Grimm Christian, Froese D Sean
Abstract excerpt
Combined methylmalonic aciduria with homocystinuria (cblC type) is a rare disease caused by mutations in the MMACHC gene. MMACHC encodes an enzyme crucial for intracellular vitamin B12 metabolism, leading to the accumulation of toxic metabolites e.g. methylmalonic acid (MMA) and homocysteine (Hcy), and secondary disturbances in folate and one-carbon metabolism when not fully functional. Patients with cblC...
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