Abstract
A 17 year old male with decreased vision, photophobia and ocular pain had ocular, cutaneous, facial features, skeletal changes and cardiac involvement suggesting a mild mucopolysaccharidosis. Particular findings were corneal cloudiness, hyperpigmentation and hypopigmentation of both fundi, low amplitude ERG, delayed VER, left ventricular hypertrophy, carpal tunnel syndrome and an I.Q. of 115. All peripheral neutrophils and 39% of the lymphocytes had metachromatic granulations. Urinary GAG were 36.2 mg/day, 96% being dermatan sulfate, 3% heparan sulfate; the former poorly degraded. Urinary arylsulfatase A was low and B absent. Cultured skin fibroblasts had increased accumulation of 35SO4 and decreased degradation of intracellular GAG. Concentrates of their media corrected the increased accumulation of 35SO4, in all types of mutant fibroblasts except those from type VI (severe variant). However, concentrates from media of the latter ones corrected in part the patient's fibroblasts, which were also corrected by subfractions β+γ of arylsulfatase B, but not appreciably by α. The latter corrected the abnormality of fibroblasts from the severe variant while β+γ did not. The possibility that the variants might represent defects of specific subunits of arylsulfatase B is being investigated. Supported by USPH AM-10811, RR-00188, HL-05435, GM-19513, the National Foundation-March of Dimes and the Robert A. Welch Foundation.
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Ferrante, N., Hyman, B., Klish, W. et al. MUCOPOLYSACCHARIDOSIS VI: STUDY OF A MILD CASE. Pediatr Res 8, 388 (1974). https://doi.org/10.1203/00006450-197404000-00289
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DOI: https://doi.org/10.1203/00006450-197404000-00289
