Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.2.1.31 (beta-glucuronidase)
 7,680 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Biochemical studies are presented on two siblings with some features of Mucolipidosis III, but with distinctive clinical findings. Levels of beta-galatosidase, alpha-mannosidase, beta-glucuronidase, N-acetyl-beta-glucosaminidase and alpha-fucosidase found in serum from these patients ranged from 10 to 10 times higher than normal. The ratio of heat stable to heat labile serum isoenzymes of N-acetyl-beta-glucosaminidase is considerably greater than normal. An extremely low activity of beta-galactosidase was found in fibroblasts cultured from one patient. Levels of the remaining enzymes were in the low normal range. Similarly, beta-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.
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PMID:A new variant mucolipidosis: biochemical investigations on two siblings. 41 May 66

Mucolipidosis III (ML-III), or pseudo-Hurler polydystrophy, is an autosomal recessive Hurler-like disorder without mucopolysacchariduria. The diagnosis is challenging for rheumatologists since the musculoskeletal presentation is similar to some rheumatic diseases. We report a case of ML-III in a 16-year-old Taiwanese boy. The characteristic findings of sonography and magnetic resonance imaging (MRI) of claw hand deformity are described. A 16-year-old boy was referred to our rheumatologic clinic because of progressive claw hand deformity, multiple joint stiffness and tightness of the skin over the fingers at the age of 6 years. Sonography and MRI examination disclosed tendon sheath thickening over extensor tendons of both wrists and fingers without features of active inflammation over tendons or joints nor thickening of skin. Urinary glycosaminoglycans were normal. The diagnosis of ML-III was confirmed by the presence of elevated activities of beta-glucuronidase (2141.99 nmol/mg protein/hour), arylsulfatase A (1237.7 nmol/mg protein/hour) and alpha-fucosidase (52.95 nmol/mg protein/hour) in his plasma and decreased activity of these lysosomal enzymes in cultured skin fibroblasts. Sonography and MRI screening for claw hand deformity may offer important clues enabling early diagnosis of ML-III.
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PMID:A mucolipidosis III patient presenting characteristic sonographic and magnetic resonance imaging findings of claw hand deformity. 1536 46