Abstract | BACKGROUND: METHODS: Compound heterozygosity for mutations in the ACSF3 gene was detected in two female siblings using diagnostic exome sequencing. Urine (MMA and MA) was analyzed with GC/MS, while plasma was analyzed with UPLC-MS/MS. MA/MMA ratios were calculated. RESULTS: Both patients had a severe psychiatric presentation (at the age of 6 years and 5.5 years, respectively) after a viral infection. MA excretion in the patients was only just above the highest control value in several samples. MA concentrations in plasma from the two patients were clearly above the highest value observed in control subjects. However, MA concentrations in plasma from patients with classic MMAemia were also elevated. Additional, calculation of MA/MMA ratio in plasma allowed to fully differentiate between CMAMMA and classic MMAemia. CONCLUSIONS: Calculating the MA/MMA ratio in plasma allows differentiation between CMAMMA and classic MMAemia. The full clinical spectrum of CMAMMA remains to be delineated.
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Authors | Monique G M de Sain-van der Velden, Maria van der Ham, Judith J Jans, Gepke Visser, Hubertus C M T Prinsen, Nanda M Verhoeven-Duif, Koen L I van Gassen, Peter M van Hasselt |
Journal | JIMD reports
(JIMD Rep)
Vol. 30
Pg. 15-22
( 2016)
ISSN: 2192-8304 [Print] United States |
PMID | 26915364
(Publication Type: Journal Article)
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