Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.1.6.1 (sulfatase)
 3,205 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

During 1986 and 1991, we had diagnosed 12 cases with genetic leukodystrophy including 9 cases with metachromatic leukodystrophy (MLD), 1 case with globoid cell leukodystrophy (GLD, Krabbe's disease), 1 case with neonatal adrenoleukodystrophy (NALD), and the other with probable Pelizaeus-Merzbacher disease (P-M disease). The clinical, biochemical, neurophysiological and neuroradiological features were reported. The diagnosis of MLD, GLD, NALD was confirmed by means of the measurement of serum arylsulfatase A activity, leukocyte galactocerebrosidase activity and serum very long chain fatty acids, respectively. The P-M disease was highly suspected according to clinical picture and evoked potential findings. All the brainstem auditary evoked potentials (BAEPs) and the scalp somatosensory evoked potentials (scalp SEPs) studies in 6 patients with MLD, 1 patient with GLD and 1 patient with NALD were abnormal. In patients with MLD or GLD, the nerve conduction velocity (NCV) studies showed moderate to severe slowing suggesting peripheral demyelinating neuropathy. Brain CT in patients with MLD or NALD demonstrated marked lucency in the white matter. Brain CTs in the patient with GLD showed progressive brain atrophy. In conclusion, though final diagnosis of genetic leukodystrophy should be established throughout biochemical studies, the neurophysiological and neuroimaging studies are of value as an aid to early diagnosis, prediction of clinical course and evaluation of prognosis for genetic leukodystrophy.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:A study of genetic leukodystrophies in Chinese children. 162 51

Mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders, each with deficiency of an enzyme degrading glycosaminoglycans (GAG). To increase the ability to differentiate each of the disorders, the N-acetyl-galactosamine-4-sulfatase (arylsulfatase B) activity was measured in human peripheral leukocytes and skin fibroblasts. The assay employed p-nitrocatechol sulfate as an artificial substrate, and barium salt as an inhibitor to arylsulfatase A. Applying this method, a case of Maroteaux-Lamy syndrome (MPS type VI) was recognized in a six-year-old girl who had cloudy cornea, coarse-appearing face, mucopolysacchariduria, and white cell metachromasia. Her body height and mentality were normal. Arylsulfatase B activity in her skin fibroblasts was around 5% of normal. Diagnosis of MPS VI, especially in its milder form, depends on enzyme test.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Quantification of arylsulfatase B activity and diagnosis of Maroteaux-Lamy syndrome. 177 56

Sputum from asthmatics contained a mediator similar to slow reacting substance of anaphylaxis (SRS-A), capable of inducing contraction of guinea pig ileum. This mediator possessed the major characteristics of SRS-A, including stability in both neutral and alkaline solutions, lability in boiling acidic solution, destruction by arylsulfatase, inhibition by FPL 55712 and resistance to diphenhy dramine . Thus, we proved that the "SRS-A like" mediator was in fact SRS-A. The activity of histamine in these patients' sputa could be inhibited only by diphenhydramine, but could not be altered by any of the other treatments noted above.
Zhonghua Min Guo Wei Sheng Wu Ji Mian Yi Xue Za Zhi 1984 Feb
PMID:[Characterization of slow reacting substance of anaphylaxis in asthmatic sputum]. 674 94