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A case of using specialized medical nutrition product containing anhydrous betaine in patient with homocystinuria

Year: 2025

Type: article

Abstract: BACKGROUND: Although homocystinuria is a rare disorder, its management remains an important issue in modern pediatrics. Diet therapy is the main pathogenetic treatment for patients with homocystinuria. The use of betaine as part of combination therapy helps reduce plasma homocysteine concentrations, particularly in patients who do not respond to other treatment approaches. A CASE REPORT: A 12-year-old child with genetically confirmed pyridoxine-responsive homocystinuria underwent substitution of an imported preparation containing anhydrous betaine with a specialized medical nutrition product, Amino Acid Module Betaine (ORPHANIC® trademark). The previously effective combination therapy regimen remained unchanged. CONCLUSION: Replacement of anhydrous betaine within the previously established treatment regimen, followed by 30 days of administration of the medical nutrition product Amino Acid Module Betaine (ORPHANIC® trademark) containing betaine anhydrous, demonstrated a good safety profile. This substitution did not significantly affect the patient’s general condition, disease course, or key parameters of sulfur-containing amino acid metabolism. Prescription of the medical nutrition product Amino Acid Module Betaine (ORPHANIC® trademark) containing anhydrous betaine, or transition of a patient to this product, requires monitoring of the patient’s general condition and regular determination of sulfur-containing amino acid metabolism parameters. This study represents the first clinical evaluation of anhydrous betaine produced in Russia. The obtained results indicate its efficacy and safety in the treatment of a patient with homocystinuria.

Source: Clinical nutrition and metabolism

DOI: 10.17816/clinutr686633

Authors: Anna A. Agafonova, Svetlana V. Mikhaylova, Natalya A. Votyakova, Mayya V. Zazhivikhina, Larisa I. Minaycheva, Gulnara N. Seitova

Institutions: Russian Academy of Sciences, Research Institute of Medical Genetics of Russian Academy of Medical Sciences, Tomsk National Research Medical Center, Pirogov Russian National Research Medical University, Russian Children's Clinical Hospital

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDGs: Good health and well-being, Zero hunger

Open Access status: diamond

OpenAlex ID: W4414606560

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Cites: 4

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