FIELD: chemistry; medicine.
SUBSTANCE: invention relates to preparations containing PEGylated cystathionine-β-synthase (CBS), and their use in the treatment of homocystinuria. Disclosed is a lyophilised drug preparation for treating homocystinuria in a subject, containing a drug containing isolated CBS protein containing SEQ ID NO: 1, and at least one 20 kDa PEG molecule covalently bonded to the CBS protein, 15 mM potassium phosphate and 8%(wt./vol.) trehalose. What is also presented is a reconstituted liquid formulation for treating homocystinuria in a subject. Said preparation is used to reduce homocysteine (Hcy) or increase cysteine (Cys) and/or cystathionine (Cth) in a subject in need thereof, as well as for the treatment of homocystinuria in a subject in need thereof.
EFFECT: invention provides the effective treatment of homocystinuria.
66 cl, 3 dwg, 19 tbl, 18 ex
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