Ontology highlight
ABSTRACT:
SUBMITTER: de Sain-van der Velden MG
PROVIDER: S-EPMC5110436 | biostudies-literature | 2016
REPOSITORIES: biostudies-literature
de Sain-van der Velden Monique G M MG van der Ham Maria M Jans Judith J JJ Visser Gepke G Prinsen Hubertus C M T HC Verhoeven-Duif Nanda M NM van Gassen Koen L I KL van Hasselt Peter M PM
JIMD reports 20160227
<h4>Background</h4>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). Detection of MA in urine, however, is challenging since excretion of MA can be easily missed. The objective of the study was to develop a method for quantification of MA in plasma to allow differe ...[more]