Case report: Methylmalonic acidemia in a preschool child
DOI:
https://doi.org/10.33448/rsd-v14i5.48697Keywords:
Metabolism, Inborn Errors; Methylmalonic Acid; Child, Preschool; Preschool Teaching.Abstract
Methylmalonic acidemia is an autosomal recessive disease stemming from a rare metabolic disorder caused by a deficiency of the mitochondrial enzyme methylmalonyl-CoA mutase. It can present either in the first days of life or have a later onset. This paper aims to present a clinical case of methylmalonic acidemia in childhood and discuss the importance of considering rare diagnoses in the investigation of challenging clinical conditions. Along with data collection from the patient, a literature review was conducted for subsequent clinical correlation. The patient is a 2-year and 9-month-old mixed-race male, presenting with vomiting, decreased level of consciousness, impaired psychomotor ability, prostration, and signs of dehydration. After numerous hospitalizations, an organic acid quantification test was performed, indicating an altered concentration profile. Subsequently, under the care of medical and nutritional specialists, a genetic panel for treatable diseases was requested, leading to a diagnosis of heterozygosity for a pathogenic variant in the MMUT gene. Treatment was initiated with a nutritionist, including vitamin supplementation and dietary restrictions, and the patient is under follow-up with a pediatric neurologist. The clinical condition is well controlled when dietary guidelines, particularly protein restriction, are followed—otherwise, metabolic decompensation may occur. It is possible to conclude the need to disseminate more information about this pathology to enable increasingly early diagnoses and, consequently, more effective treatments.
References
Armstrong, A. J., Collado, M. S., Henke, B. R., Olson, M. W., Hoang, S. A., Hamilton, C. A., Pourtaheri, T. D., Chapman, K. A., Summar, M. M., Johns, B. A., Wamhoff, B. R., Reardon, J. E., & Figler, R. A. (2021). A novel small molecule approach for the treatment of propionic and methylmalonic acidemias. Molecular Genetics and Metabolism, 133(1), 71–82.
Baumgartner, M. R., Hörster, F., Dionisi-Vici, C., Haliloglu, G., Karall, D., Chapman, K. A., Huemer, M., Hochuli, M., Assoun, M., Ballhausen, D., Burlina, A., Fowler, B., Grünert, S. C., Grünewald, S., Honzik, T., Merinero, B., Pérez-Cerdá, C., Scholl-Bürgi, S., Skovby, F., ... Chakrapani, A. (2014). Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet Journal of Rare Diseases, 9(1).
Brox-Torrecilla, N., Arhip, L., Miguélez-González, M., Castellano-Gasch, S., Contreras-Chicote, A., Rodríguez-Ferrero, M. L., Motilla de la Cámara, M. L., Serrano-Moreno, C., & Cuerda Compes, C. (2021). Late-onset methylmalonic acidemia and homocysteinemia: a case report. Nutrición Hospitalaria. 38(4), 871-875.
Chen, T., Gao, Y., Zhang, S., Wang, Y., Sui, C., & Yang, L. (2023). Methylmalonic acidemia: Neurodevelopment and neuroimaging. Frontiers in Neuroscience, 17, 1110942.
Colombiano, C., Sampaio, R., Oliveira Filho, A., Santos, R., Pinasco, G., Manhabusque, K., & Santos, V. (2020). Methylmalonic acidemia in Pediatrics: case report. Residência Pediátrica, 10(3).
Es Sadki, T., Badiou, S., Boubal, M., Baleine, J., Sieso, V., Vallat, C., Cristol, J.-P., Vianey-Saban, C., & Cambonie, G. (2016). Isolated methylmalonic acidemia: a case report. Annales de biologie clinique, 74(4), 472–476.
Forny, P., Hörster, F., Ballhausen, D., Chakrapani, A., Chapman, K. A., Dionisi-Vici, C., Dixon, M., Grünert, S. C., Grunewald, S., Haliloglu, G., Hochuli, M., Honzik, T., Karall, D., Martinelli, D., Molema, F., Sass, J. O., Scholl-Bürgi, S., Tal, G., Williams, M., Huemer, M., & Baumgartner, M. R. (2021). Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision. Journal of inherited metabolic disease, 44(3), 566–592.
Han, B., Nie, W., Sun, M., Liu, Y., & Cao, Z. (2020). Clinical presentation, molecular analysis and follow-up of patients with mut methylmalonic acidemia in Shandong province, China. Pediatrics and neonatology, 61(2), 148–154.
Head, P. E., Meier, J. L., & Venditti, C. P. (2023). New insights into the pathophysiology of methylmalonic acidemia. Journal of Inherited Metabolic Disease, 46 (3), 436–449.
Hörster, F., Tuncel, A. T., Gleich, F., Plessl, T., Froese, S. D., Garbade, S. F., Kölker, S., Baumgartner, M. R., & Additional Contributors from E-IMD (2021). Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut. Journal of inherited metabolic disease, 44(1), 193–214.
Keyfi, F., Talebi, S., & Varasteh, A.-R. (2016). Methylmalonic Acidemia Diagnosis by Laboratory Methods. Reports Of Biochemistry And Molecular Biology, 5(1), 1–14.
Manoli, I., Gebremariam, A., McCoy, S., Pass, A. R., Gagné, J., Hall, C., Ferry, S., Van Ryzin, C., Sloan, J. L., Sacchetti, E., Catesini, G., Rizzo, C., Martinelli, D., Spada, M., Dionisi-Vici, C., & Venditti, C. P. (2023). Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia (MMA). Journal of inherited metabolic disease, 46(4), 554–572.
Merideth, M. A., Sloan, J., Van Ryzin, C., Gebremariam, A., Ferry, S., Manoli, I., Shchelochkov, O., & Venditti, C. P. (2022). Gynecologic issues in methylmalonic acidemia (mma), cobalamin disorders and propionic acidemia. Molecular Genetics and Metabolism, 135(4), 287.
Nóra, G. R., Trindade, F. B., & Soejima, S. N. (2017). Acidemia metilmalônica - relato de caso. Revista Médica da UFPR, 4(3), 143-146.
Nyhan, W. L., Hoffmann, G. F., Al-Aqeel, A. I., & Barshop, B. A. (2020). Methylmalonic acidemia. In Atlas of Inherited Metabolic Diseases (pp. 20–33). CRC Press.
Pereira, A.S. et al. (2018). Metodologia da pesquisa científica. [free e-book]. Editora da UFSM.
Pinto, A., Evans, S., Daly, A., Almeida, M. F., Assoun, M., Belanger-Quintana, A., Bernabei, S. M., Bollhalder, S., Cassiman, D., Champion, H., Chan, H., Corthouts, K., Dalmau, J., Boer, F., Laet, C., Meyer, A., Desloovere, A., Dianin, A., Dixon, M., Dokoupil, K., … MacDonald, A. (2020). Dietary practices in methylmalonic acidaemia: a European survey. Journal of pediatric endocrinology & metabolism: JPEM, 33(1), 147–155.
Toassi, R. F. C & Petry, P. C. (2021). Metodologia científica aplicada à área da Saúde. (2 ed;). Editora da UFRGS.
Vergano S. A. S. (2022). Inborn Errors of Metabolism: Becoming Ready for Rare. Pediatrics in review, 43(7), 371–383.
Yaghmaei, B., Rostami, P., Varzaneh, F. N., Gharib, B., Bazargani, B., & Rezaei, N. (2016). Methylmalonic acidemia with emergency hypertension. Nefrología, 36(1), 75–76.
Zhou, X., Cui, Y., & Han, J. (2018). Methylmalonic acidemia: Current status and research priorities. Intractable & Rare Diseases Research, 7(2), 73–78.
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