A case of using specialized therapeutic nutrition containing betaine anhydride in a patient with homocystinuria

Background: Despite the rare of occurrence, the treatment of patients with homocystinuria is the actual problem in modern pediatrics. Diet therapy is the primary pathogenetic approach to treating patients with homocystinuria. The use of betaine in combination with other treatments can help to low blood homocysteine levels, especially in patients who do not respond to other treatments.CASE Description: 12-year-old patient with genetically confirmed pyridoxine-responsive homocystinuria was involved in the study. The patient was transferred from a non-domestically produced medication containing anhydrous betaine to the specialised dietary therapeutic product - Aminoacid Module «Betaine» under the ORFANIC® brand. At the same time, the previously assigned effective individualized complex therapy remained unchanged. Conclusion: The replacement of anhydrous betaine, which is the part of the patient's individually selected complex therapy, and the use of the Aminoacid Module "Betaine" under the ORFANIC® brand for 30 days, showed a good safety profile and did not significantly affect the patient's overall condition, the course of the disease, or the main indicators of sulfur-containing amino acid metabolism. The initiation of the dietary therapeutic product Amino Acid Module «Betaine» (ORFANIC®), containing anhydrous betaine, or the transition of patients to this product, should be conducted under close monitoring of the patients’ general condition, accompanied by systematic assessment of sulphur-containing amino acid metabolism parameters. This is the first case of using of anhydrous betaine which was produced in Russia. The results indicate its effectiveness and safety in the treatment of patient with homocystinuria.