TREATMENT OF MPS-VII (SLY-DISEASE) BY ALLOGENEIC BMT IN A FEMALE WITHHOMOZYGOUS A619V MUTATION

A 12-year-old girl with Sly disease (mucopolysaccharidosis VII; beta-g lucuronidase deficiency), who is homozygous for the A619V mutation, ha d a successful allogeneic BMT, donored by an HLA-identical unrelated f emale to replace the deficient enzyme, Within 5 months after BMT, the enzyme activity of the recipient's lymphocytes increased to normal ran ge, No signs of acute or chronic GVHD were observed, For the successiv e 31 months post-BMT, beta-glucuronidase activity in her lymphocytes w as maintained at almost normal levels and excretion of glycosaminoglyc ans in the urine was greatly diminished, Ultrastructural findings demo nstrated no abnormal vacuoles and inclusion bodies in the cytoplasm of her rectal mucosal cells, Coincident with the restoration of the enzy me activity, clinical improvement was dramatic, Especially notable wer e improvements in motor function, The patient was able to walk alone f or a long time without aid, and she even became able to ride a bicycle and take a bath, In addition, recurrent infections of the upper respi ratory tract and the middle ears decreased in frequency and severity, and dyspnea on exertion, severe snoring and vertigo have substantially improved, Thus, allogeneic BMT in this patient produced a better qual ity of life and provided a more promising outlook.