Research & Literature

A New Approach for Fast Metabolic Diagnostics in CMAMMA.

de Sain-van der Velden MG, van der Ham M, Jans JJ, et al.

JIMD reports 2016; (30()):15-22 doi:10.1007/8904_2016_531.

Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program.

Navarrete R, Leal F, Vega AI, et al.

European journal of human genetics : EJHG 2019; (27(4)):556-562 doi:10.1038/s41431-018-0330-0.

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

Levtova A, Waters PJ, Buhas D, et al.

Journal of inherited metabolic disease 2019; (42(1)):107-116 doi:10.1002/jimd.12032.

The emerging role of the mitochondrial fatty-acid synthase (mtFASII) in the regulation of energy metabolism.

Wehbe Z, Behringer S, Alatibi K, et al.

Biochimica et biophysica acta. Molecular and cell biology of lipids 2019; (1864(11)):1629-1643 doi:10.1016/j.bbalip.2019.07.012.

Brain metabolism and neurological symptoms in combined malonic and methylmalonic aciduria.

Tucci S

Orphanet journal of rare diseases 2020; (15(1)):27 doi:10.1186/s13023-020-1299-7.

Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria.

Gabriel MC, Rice SM, Sloan JL, et al.

Molecular genetics & genomic medicine 2021; (9(4)):e1621 doi:10.1002/mgg3.1621.

A novel small molecule approach for the treatment of propionic and methylmalonic acidemias.

Armstrong AJ, Collado MS, Henke BR, et al.

Molecular genetics and metabolism 2021; (133(1)):71-82 doi:10.1016/j.ymgme.2021.03.001.

[MOLECULAR-GENETIC ASPECTS OF METHYLMALONIC ACIDURIA DEVELOPMENT (REVIEW)].

Zharmakhanova G, Syrlybayeva L, Kononets V, et al.

Georgian medical news 2021; 118-124.

Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients.

Wang P, Shu J, Gu C, et al.

Frontiers in pediatrics 2021; (9()):751895 doi:10.3389/fped.2021.751895.

DNA Methylation Level of Transcription Factor Binding Site in the Promoter Region of Acyl-CoA Synthetase Family Member 3 (ACSF3) in Saudi Autistic Children.

Algothmi K, Alqurashi A, Alrofaidi A, et al.

Pharmacogenomics and personalized medicine 2022; (15()):131-142 doi:10.2147/PGPM.S346187.

Neurologic outcome following liver transplantation for methylmalonic aciduria.

Martinelli D, Catesini G, Greco B, et al.

Journal of inherited metabolic disease 2023; (46(3)):450-465 doi:10.1002/jimd.12599.

Combined Malonic and Methylmalonic Aciduria Diagnosed by Recurrent and Severe Infections Mimicking a Primary Immunodeficiency Disease: A Case Report.

Lee JK, Oh A

Journal of Korean medical science 2023; (38(45)):e387 doi:10.3346/jkms.2023.38.e387.

Dual molecular genetic diagnosis with combined malonic and methylmalonic aciduria (CMAMMA): implications of coexisting genetic disorders on clinical presentation.

Ersoy M, Abali ZY, Papatya Cakir ED, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2025; (38(12)):1340-1349 doi:10.1515/jpem-2025-0208.

A Deep Clinical and Biochemical Characterization of a Patient With Combined Malonic and Methylmalonic Aciduria (CMAMMA).

Gragnaniello V, Galderisi A, Tucci S, et al.

JIMD reports 2025; (66(6)):e70045 doi:10.1002/jmd2.70045.

Biallelic ACSF3 variants with combined malonic and methylmalonic acidemia and associated developmental epileptic encephalopathy phenotype: A novel genotype-phenotype correlation.

Curry J, Bonkowski E, Mefford H, et al.

Seizure 2025; (133()):16-19 doi:10.1016/j.seizure.2025.09.015.