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A new variant mucolipidosis: Biochemical investigations on two siblings |
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| Authors: | Robert Sandman Shaul Yatsiv William Van B Robertson Robert P Erickson |
| Institution: | a Department of Pediatrics, University of California, San Francisco, San Francisco, Calif., U.S.A. b Department of Pediatrics, Children's Hospital at Stanford, Stanford University, Palo Alto, Calif., U.S.A. |
| Abstract: | Biochemical studies are presented on two siblings with some features of Mucolipidosis III, but with distinctive clinical findings. Levels of β-galactosidase,  -mannosidase, β-glucuronidase, N-acetyl-β-glucosaminidase and -fucosidase found in serum from these patients ranged from 10 to 100 times higher than normal. The ratio of heat stable to heat labile serum isoenzymes of N-acetyl-β-glucosaminidase is considerably greater than normal.An extremely low activity of β-galactosidase was found in fibroblasts cultured from one patient. Levels of the remaining enzymes were in the low normal range. Similarly, β-galactosidase levels were low in heart, kidney, liver, spleen and lung of one patient who died during the course of the study. Activities of the remaining enzymes were close to normal. No excessive excretion of mucopolysaccharide was noted, however, changes in distribution of several fractions were found. Mucopolysaccharide labeled with radioactive sulfate was degraded by cultured fibroblasts at a normal rate. In addition to clinical differences, the biochemical studies further demonstrate the uniqueness of these patients. |
| Keywords: | Reprint requests should be addressed to: Dr Robert Sandman Department of Ophthalmology University of California San Francisco Calif 94143 U S A |
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