Case Report: Dilated cardiomyopathy as the initial presentation in an adult with late-onset CblC defect

Combined methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, represents the most common inborn error of cobalamin metabolism, caused by pathogenic variants in the <i>MMACHC</i> gene. We report the case of a 27-year-old Chinese woman who presented with dilated cardiomyopathy and renal insufficiency. Blood amino acid and acylcarnitine profiling revealed elevated ratios of propionylcarnitine (C3) to acetylcarnitine (C2) and C3 to free carnitine (C0). Genetic testing identified compound heterozygous pathogenic variants in <i>MMACHC</i>-<i>c.80A</i> <i>></i> <i>G, p. (Gln27Arg)</i> and <i>c.609G</i> <i>></i> <i>A, p. (Trp203Ter)</i>-confirming the diagnosis of cblC-type methylmalonic aciduria with homocystinuria. Despite administration of vitamin B12 and betaine, her heart function did not improve. The patient eventually succumbed to severe COVID-19 infection, which led to metabolic acidosis, renal failure, and multi-organ failure. This case underscores the challenging clinical course of late-onset cblC disorder and contributes to its expanding phenotypic spectrum.