Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort

Background The clinical significance of combined malonic and methylmalonic aciduria due to ACSF3 deficiency (CMAMMA) is controversial. In most publications, affected patients were identified during the investigation of various complaints. Methods Using a cross‐sectional multicenter retrospective nat...

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Bibliographic Details
Published in:Journal of inherited metabolic disease 2019-01, Vol.42 (1), p.107-116
Main Authors: Levtova, Alina, Waters, Paula J., Buhas, Daniela, Lévesque, Sébastien, Auray‐Blais, Christiane, Clarke, Joe T.R., Laframboise, Rachel, Maranda, Bruno, Mitchell, Grant A., Brunel‐Guitton, Catherine, Braverman, Nancy E.
Format: Article
Language:English
Subjects:
Aciduria
ACSF3
Adolescent
Adult
Alleles
Benign
Child
Child, Preschool
CMAMMA
Coenzyme A Ligases - genetics
Cohort Studies
Combined malonic and methylmalonic aciduria
Creatinine
Creatinine - metabolism
Cross-Sectional Studies
Environmental factors
Female
Genotyping
Humans
Infant
Infant, Newborn
Male
Malonates - metabolism
malonic aciduria
Medical screening
Metabolism, Inborn Errors - genetics
Methylmalonic Acid - metabolism
methylmalonic aciduria
Mutation
Mutation - genetics
Neonatal Screening - methods
Neonates
newborn screening
Patients
Retrospective Studies
Urine
Young Adult
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Summary:Background The clinical significance of combined malonic and methylmalonic aciduria due to ACSF3 deficiency (CMAMMA) is controversial. In most publications, affected patients were identified during the investigation of various complaints. Methods Using a cross‐sectional multicenter retrospective natural history study, we describe the course of all known CMAMMA individuals in the province of Quebec. Results We identified 25 CMAMMA patients (6 months to 30 years old) with a favorable outcome regardless of treatment. All but one came to clinical attention through the Provincial Neonatal Urine Screening Program (screening on day 21 of life). Median methylmalonic acid (MMA) levels ranged from 107 to 857 mmol/mol creatinine in urine (
ISSN:0141-8955
1573-2665
DOI:10.1002/jimd.12032