the effectiveness of parenteral hydroxylcobalamin on urine mma in children with methylmalonic acidemia

Background: methylmalonic acidemia is a rare autosomal recessive disease in which there is a deficiency of intracellular cobalamin. this study aimed to assess the effectiveness of parenteral hydroxylcobalamin in the treatment of children with methylmalonic acidemia. method: this is a quasi-experimental study without a control group. the participants included under- 18-year-old children with confirmed methylmalonic acidemia. there were only 17 patients with the inclusion criteria, all of whom were included in the study. they received 1mg hydroxylcobalamin injection for 3 or 7 days based on their clinical status. data was gathered by a demographic questionnaire, along with laboratory tests of urine-mma, and plasma homocysteine, measured before and after the intervention. data analyses were performed using spss v. 26. results: the samples included 17 patients, most of whom were males (52.9%). they had various clinical manifestations consisting of hypotonia, seizure, verbal disorders, movement disorders, organomegaly, hematologic disorders, and ophthalmic disorders. the parenteral hydroxylcobalamin had a borderline significant effect on urine-mma (p=0.05); this seems to be due to the sample shortage and can become strongly significant with sample increase. conclusion: the results revealed the effectiveness of parenteral hydroxylcobalamin in mma patients. however, there is no standard guideline to suggest the perfect dose of it to acquire the optimum result; so it is suggested to conduct more clinical trials or cohort studies to be done.