Article
Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype.
Journal of medical genetics - 1 Sept 2011
Alfares Ahmed, Nunez Laura Dempsey, Al-Thihli Khalid, Mitchell John, Melançon Serge, Anastasio Natascia, Ha Kevin C H, Majewski Jacek, Rosenblatt David S, Braverman Nancy
Abstract excerpt
BACKGROUND: Combined Malonic and Methylmalonic Aciduria (CMAMMA) is a rare recessive inborn error of metabolism characterised by elevations of urine malonic acid (MA) and methylmalonic acid (MMA). Nearly all reported cases are caused by malonyl-CoA decarboxylase (MCD) deficiency. Most patients have metabolic acidosis, developmental delay, seizures and cardiomyopathy. CMAMMA was also described in symptomatic...
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