Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.2.1.23 (beta-galactosidase)
 14,648 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Dental examinations on nine patients with mucopolysaccharidosis type IV A (MPS IV A, Morquio's disease type A) were carried out. Detailed medical, radiologic, and biochemical studies of each case were also performed independently. Dental changes were present in all cases, although the severity varied. The severity of the dental changes did not correlate with the clinical or biochemical findings in all cases. These dental changes are seen only in MPS IV A (N-acetylgalactosamine-6-sulphate sulphatase deficiency) and are not found in MPS IV B (beta-galactosidase deficiency) or the recently delineated MPS IV C (enzyme defect unknown). The dental changes can aid in the diagnosis of patients affected by MPS IV A and are especially useful in mild atypical cases.
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PMID:Dental findings in mucopolysaccharidosis type IV A (Morquio's disease type A). 212 90

Typical dental changes were present in all cases, although they were of variable degree. However, the tooth morphology would appear to be highly specific for MPS IV A, and is not found in MPS IV B (beta-galactosidase deficiency) or the recently delineated MPS IV C (enzyme defect unknown). Thus the dental changes have a very useful diagnostic potential in mild atypical cases of MPS IV A, although they may only be demonstrable radiologically in some such cases.
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PMID:Clinical findings in 12 patients with MPS IV A (Morquio's disease). Further evidence for heterogeneity. Part II: Dental findings. 312 22

In order to estimate the cumulative incidence rates of the mucopolysaccharidoses (MPS) in Germany, a retrospective epidemiological survey covering the period between 1980 and 1995 was implemented. Multiple ascertainment sources were used to identify affected patients. A prevalence of approximately 0.69 cases per 100,000 births was obtained for MPS I (Hurler phenotype). Within the study period, 4 patients with Hurler/Scheie phenotype and 7 cases with Scheie disease were detected. The cumulative incidence for MPS II (Hunter syndrome) was estimated as 0.64 cases per 100,000 births (1.3 cases per 100,000 male live births); that for MPS III (Sanfilippo syndrome types A, B and C) as 1.57 cases in 100,000 births; that for MPS IV A (Morquio syndrome) as 0.38 cases in 100,000; and that for MPS VI (Maroteaux-Lamy syndrome) as 0.23 cases per 100,000 births. Two cases of MPS IVB (beta-galactosidase deficiency) have been identified, but no patients with MPS VII or MPS IX. A relatively high number of patients with MPS IIIB, MPS IVA and MPS VI were of Turkish origin. The crude rate for all types of mucopolysaccharidoses is approximately 3.53 cases in 100,000 live births. The cumulative incidence pattern of MPS in Germany was compared with the corresponding rates among other industrial nations obtained from recent literature: the crude cumulative rates for all types of mucopolysaccharidoses (3.4-4.5 in 100,000 live births) were similar among all published populations; however, different frequencies of the various forms of MPS were observed.
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PMID:Cumulative incidence rates of the mucopolysaccharidoses in Germany. 1643 94

Morquio B disease (MBD) or Mucopolysaccharidosis type IV B (MPS IV B) is caused by particular GLB1 mutations specifically affecting the affinity of beta-galactosidase to keratan sulphate, resulting in dysostosis multiplex resembling Morquio A (MPS IV A) disease (GALNS deficiency). Additional neuronopathic features of GM1 II/III (juvenile/adult) gangliosidosis have been reported in some patients. Our patient/caregiver online survey was aimed at elucidating the clinical manifestations of this ultra-rare condition. Comparing to previously published data on MPS IV A, the 30 respondents in our MBD group presented with greater growth chart values (weight and height) and with lesser effects of odontoid hypoplasia. The most common concerns are: (1) mobility issues - 84% having difficulty walking; (2) chronic pain - 96%; (3) surgeries - average 3 per person, 80% for hip problems; (4) hip dysplasia, knee/ankle concerns, and scoliosis. Approximately 50% of MBD participants live independently and actively contributing to society. Evidence from our survey results supports the notion that skeletal manifestations in MBD are milder than in the majority of patients with MPS IV A. The data collected will help with the establishment of clinically meaningful outcomes for future therapeutic trials, and with the counseling of newly diagnosed patients about their health expectations.
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PMID:Morquio B patient/caregiver survey: First insight into the natural course of a rare GLB1 related condition. 3009 86