University of Colorado

Johan L Van Hove

Michael Fitzpatrick Wempe

Kenneth N Maclean

Michael A Swanson

Curtis Coughlin, Ii

Hua Jiang

Embodiments of the instant disclosure relate to novel compositions and methods for treating a subject having homocystinuria. In some embodiments, compositions and methods disclosed herein concern improving efficacy of betaine to reduce dietary compliance requirements and improve outcomes. In accordance with these embodiments, a subject having or suspected of developing homocystinuria can be treated with formate, a salt thereof, a formate derivative or formate precursor or prodrug agent alone or in combination with trimethylglycine or other HCU treatments. In other embodiments, a subject having or suspected of developing homocystinuria can be treated with zinc and/or trimethylglycine and/or formate derivative to treat homocystinuria in the subject. In other embodiments, a subject having or suspected of developing Nonketotic hyperglycinemia (NKH) can be treated with formate, a salt thereof, a formate derivative, or formate precursor or prodrug agent to treat NKH in the subject.

Compositions and methods for treating homocystinuria and other conditions

Methods for determining the presence or amount of oxopiperidine in a biological sample using mass spectrometry. These methods may be used to efficiently and non-invasively diagnose pyridoxine dependent epilepsy (PDE) due to deficient a-aminoadipic-δ-semialdehyde (α-AASA) dehydrogenase activity due to mutations in ALDH7A1, resulting in the accumulation of Δ-P6C, P6CH, and 6-Oxo-PIP in biological samples.

Growing community of inventors

Castle Rock, CO, United States of America

Johan L Van Hove