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-۱۸-year-old children with confirmed methylmalonic acidemia. There were only ۱۷ patients with the inclusion criteria, all of whom were included in the study. They received ۱mg hydroxylcobalamin injection for ۳ or ۷ 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. ۲۶. Results: The samples included ۱۷ patients, most of whom were males (۵۲.۹%). 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=۰.۰۵); 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.

Keywords:

Hydroxylcobalamin , , , , , methyl malonic acidemia , , , , , children