Combined malonic and methylmalonic aciduria: Exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype

Medicine and Dentistry

• Methylmalonic aciduria 100%
• Malonate 50%
• Malonyl Coenzyme A Decarboxylase 50%
• Exome Sequencing 50%
• Carboxylyase 33%
• Methylmalonic Acid 33%
• Metabolic Acidosis 16%
• Long Chain Fatty Acid Coenzyme A Ligase 16%

Biochemistry, Genetics and Molecular Biology

• Proband 100%
• Malonyl-CoA Decarboxylase 75%
• Population Dynamics 25%
• Acyl-CoA 25%
• Excretion 25%
• Inborn Error of Metabolism 25%
• Candidate Gene 25%

Agricultural and Biological Sciences

• Exome Sequencing 75%
• Acyl-CoA 25%
• Metabolic Acidosis 25%