Title : A New Approach for Fast Metabolic Diagnostics in CMAMMA.

Pub. Date : 2016

PMID : 26915364






2 Functional Relationships(s)
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1 BACKGROUND: The presence of increased urinary concentrations of both methylmalonic acid (MMA) and malonic acid (MA) is assumed to differentiate combined malonic and methylmalonic aciduria (CMAMMA), due to mutations in the ACSF3 gene, from other causes of methylmalonic aciduria (classic MMAemia). Methylmalonic Acid acyl-CoA synthetase family member 3 Homo sapiens
2 BACKGROUND: The presence of increased urinary concentrations of both methylmalonic acid (MMA) and malonic acid (MA) is assumed to differentiate combined malonic and methylmalonic aciduria (CMAMMA), due to mutations in the ACSF3 gene, from other causes of methylmalonic aciduria (classic MMAemia). Methylmalonic Acid acyl-CoA synthetase family member 3 Homo sapiens