Afsane Nazari; Sepideh Bagheri; Zahra Abbasi Shaye; sara shirdelzade; Nafiseh Pourbadakhshan; peyman eshraghi
Abstract
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 ...
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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.
