Mirhosseini, N., Taghiyar, S., Saatchi, M. (2019). Six Patients with Methylmalonic Acidemia and Their Outcome: Literature Review and Case Series. Shahid Sadoughi University of Medical Sciences- Journal Management System, 2(2), 80-83. doi: 10.18502/wjpn.v2i2.4344
Naser Ali Mirhosseini; Sana Taghiyar; Mahdieh Saatchi. "Six Patients with Methylmalonic Acidemia and Their Outcome: Literature Review and Case Series". Shahid Sadoughi University of Medical Sciences- Journal Management System, 2, 2, 2019, 80-83. doi: 10.18502/wjpn.v2i2.4344
Mirhosseini, N., Taghiyar, S., Saatchi, M. (2019). 'Six Patients with Methylmalonic Acidemia and Their Outcome: Literature Review and Case Series', Shahid Sadoughi University of Medical Sciences- Journal Management System, 2(2), pp. 80-83. doi: 10.18502/wjpn.v2i2.4344
Mirhosseini, N., Taghiyar, S., Saatchi, M. Six Patients with Methylmalonic Acidemia and Their Outcome: Literature Review and Case Series. Shahid Sadoughi University of Medical Sciences- Journal Management System, 2019; 2(2): 80-83. doi: 10.18502/wjpn.v2i2.4344
Six Patients with Methylmalonic Acidemia and Their Outcome: Literature Review and Case Series
1Department of Pediatrics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
2Department of Clinical Biochemistry, Faculty of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
3Department of Pediatrics, Shahid sadoughi University of Medical Sciences, Yazd, Iran
Abstract
Background: Methylmalonic acidemia (MMA) is a congenital disorder due to the defects in the propionate pathway. It results from a deficiency in methylmalonyl coenzyme A mutase or one of the steps of the synthesis of the cobalamin (B12) cofactors for the enzyme. There is deficiency of methylmalonyl coA mutase (MCM) in the classic MMA.It presents with severe metabolic acidosis in the first month of life, progressive failure to thrive, feeding problems, recurrent vomiting, dehydration, hepatomegaly, lethargy, seizures, and developmental delay. Quantitative analysis of urinary organic acid patterns by GC-MS is used in MMA diagnosis. Treatment with large doses of hydroxocobalamin is helpful in some cases of MMA. Case Presentation: We Reported 6 patients with MMA with a variety of clinical manifestations and outcomes. Conclusion: The overall prognosis of classic MMA remains doubtful, whereas vitamin B12 responsive MMA has a reasonable outcome.
Chen M, Hao H, Xiong H, Cai Y, Ma F, Shi C, et al. Segmental uniparental disomy of chromosome 4 in a patient with methylmalonic acidemia. Mol Genet Genomic Med 2020; 8(1): e1063.
Korday C. Methylmalonic acidemia- A rare inborn error of metabolism. Indian J Neonatal Med Res 2016; 4(2).
Keyfi F, Abbaszadegan MR, Sankian M, Rolfs A, Orolicki S, Pournasrollah M, et al. Mutation analysis of genes related to methylmalonic acidemia: identification of eight novel mutations. Mol Biol Rep 2019; 46(1): 271-85.
Uemura Y, Kakuta N, Tanaka K, Tsutsumi YM. Anesthetic management of a patient with methylmalonic acidemia: a case report. JA Clin Rep 2018; 4(1): 71.
Elabiad MA, Moseilhy A, Mohamed M, Kandil EI. Molecular analysis of the MUT gene of an Egyptian patient with methylmalonic acidemia: Case report. Int J Res 2017; 4(7).
Molema F, Williams M, Langendonk J, Darwish-Murad S, van de Wetering J, Jacobs E, et al. Neurotoxicity including posterior reversible encephalopathy syndrome after initiation of calcineurin inhibitors in transplanted methylmalonic acidemia patients: Two case reports and review of the literature. JIMD Rep 2020; 51(1): 89-104.
Bakshi NA, Al-Anzi T, Mohamed SY, Rahbeeni Z, AlSayed M, Al-Owain M, et al. Spectrum of bone marrow pathology and hematological abnormalities in methylmalonic acidemia. Am J Med Genet A 2018; 176(3): 687-91.
Chakrapani A, Sivakumar P, McKiernan PJ, Leonard JV. Metabolic stroke in methylmalonic acidemia five years after liver transplantation. J Pediatr 2002; 140(2): 261-3.
Hirotsu A, Kusudo E, Mori N, Miyai Y, Suzuki K, Kawamoto S, et al. Successful perioperative management of living-donor liver transplantation for a patient with severe methylmalonic acidemia: a case report. JA Clin Rep 2018; 4(1): 83.
Chandler RJ, Venditti CP. Gene therapy for methylmalonic acidemia: Past, present, and future. Hum Gene Ther 2019; 30(10): 1236-44.
