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

Hereditary metabolic diseases are an exceptional cause of neurological disorders in adults. Metachromatic leukodystrophy is a hereditary alteration of the metabolism of myelin which may be manifested in adults as intellectual deterioration. A case of metachromatic leukodystrophy presented in adulthood is presented with cognitive deterioration and behavioral alterations as the only clinical manifestation. The patient was a 28 year old male studied for dementia of one year of evolution. Computerized tomography and cranial magnetic resonance demonstrated diffuse and symmetric involvement of the periventricular white matter. The visual evoked potentials were involved while the brain stem auditory potentials were normal. Study of the speed of nerve conductions was compatible with demyelinating neuropathy. The diagnosis of metachromatic leukodystrophy was confirmed by enzyme study revealing very diminished levels of aryl-sulfatase A. Although it is exceptional the adult form of metachromatic leukodystrophy should be included in the differential diagnosis of dementia. Computerized tomography and cranial magnetic resonance together with neurophysiologic studies are the principle procedures orienting diagnosis to this disease.
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PMID:[Metachromatic leukodystrophy: an exceptional cause of dementia in the adult]. 138 90

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.
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PMID:A study of genetic leukodystrophies in Chinese children. 162 51

Clinical and biochemical findings in a male subject with progressive encephalopathy and peripheral neuropathy are presented. Early development was normal. At age 3.5 years, he had seizures associated with fever. Subsequently, there was progressive neurologic deterioration. A CT brain scan at age 4 years, 2 months demonstrated multiple areas of variable density in the white matter. There was mild slowing of nerve conduction velocities and a sural nerve biopsy revealed segmental demyelinative neuropathy. Metachromatic leukodystrophy was suspected, but arylsulfatase A activity in leukocytes and fibroblasts was in the normal range. The cerebroside sulfate loading test on intact cultured fibroblasts showed attenuated hydrolysis leading to a tentative diagnosis of cerebroside sulfatase activator deficiency. However, the attenuated response of proband fibroblasts was not normalized by supplementation with activator in a reproducible manner, and urine showed hyperexcretion rather than deficiency of activator. Ultimately, an assay for galactosylceramide beta-galactosidase activity established a deficiency of this enzyme leading to the diagnosis of late-onset Krabbe disease.
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PMID:Late-onset Krabbe disease initially diagnosed as cerebroside sulfatase activator deficiency. 290 3

Trembler mice are affected by dominantly inherited neuropathy. Total lipid content and sulfatides were decreased in peripheral nerves from 15-day-old mutants. The proportion of sulfatides in per cent of total lipids was similar in control and Trembler nerves. The specific activity of ceramide galactosyltrnsferase, the enzyme responsible for the synthesis of cerebrosides, was 36 and 13% of controls, in young and adult. Trembler nerves, respectively. In contrast, cerebroside sulfotransferase activities were increased by 257 and 172% in young and adult Trembler sciatic nerves, respectively. No activator or inhibitor effect could be demonstrated. In Trembler PNS, Km, Vmax and heat sensitivity of CST differed from controls. Low levels of substrate and high arylsulfatase A activity (218% of controls) could explain the lack of sulfatide accumulation. The increased in vivo sulfate and galactose incorporation into non-lipidic material couild reflect the overproduction of endoneurial and perineurial connective tissue, whereas the high turnover rate of sulfatides could be correlated with intense demyelination and remyelination observed in Trembler PNS.
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PMID:Abnormal sulfate metabolism in a hereditary demyelinating neuropathy. 610 27

A patient with neuropathy and myopathy since infancy but whose neuropathy had been stable for a number of years showed a profound deficiency of arylsulfatase A in leukocytes and urine. Urine contained material that stained metachromatically and cochromatographed with cerebroside sulfate. In contrast, cultured fibroblasts contained about 10-20% of normal arylsulfatase A with properties identical to properties of normal fibroblast enzyme, except that it showed no cerebroside sulfatase activity. Growing fibroblasts in the cerebroside sulfate loading test had an attenuated rate of sulfatide hydrolysis. A re-examination of the cerebroside sulfatase reaction revealed that while only limited hydrolysis occurred with low concentrations of taurodeoxycholate or cholate (type I activation), significant hydrolysis of the natural substrate did take place with high concentrations of cholate (type II activation). This suggests that there is a partial cerebroside sulfatase defect in this atypical form of metachromatic leukodystrophy.
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PMID:Metachromatic leukodystrophy caused by a partial cerebroside sulfatase. 612 84

Metachromatic leukodystrophy is a rare autosomal recessive disorder with deficient arylsulphatase A activity. Different forms occur according to the age at onset of symptoms. Adult forms generally present with presenile dementia and/or psychiatric symptoms. We report a case of a 45-year-old woman, without a family history of neuropsychiatric disorders, presenting with complaints of numbness and weakness of the lower limbs. No intellectual or behavioral disturbances were clinically detectable. Electrophysiological investigation was compatible with severe demyelinating neuropathy in upper and lower limbs. MRI of the brain showed multiple white matter lesions. Adult metachromatic leukodystrophy was diagnosed on the basis of low leucocyte arylsulfatase-A-activity and accumulation of metachromatic material in the sural nerve. Pseudo-deficiency was excluded by DNA analysis. This case indicates that adult metachromatic leukodystrophy should be considered in patients with symptoms and signs resembling multiple sclerosis with peripheral neuropathy and in patients with neuropathy of unknown etiology.
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PMID:[Neuropathy in adult metachromatic leukodystrophy]. 801 55

A 33-year-old male patient was admitted to our hospital because of progressive gait disturbance and involuntary movement of the neck. He showed choroideremia, distal motor neuropathy, and leukoencephalopathy on T2-weighted brain magnetic resonance imaging (MRI). Choroideremia is a rare X-linked, progressive, degenerative disease of retina and choroid. There have been some reports of choroideremia patients with neurological complications. Recent studies have assigned its genetic locus to a small segment of Xq21.3 and it encodes a protein that resembles component A of rat Rab geranyl-geranyl transferase, a protein essential for cell function. This patient did not have the reported genetic abnormalities for choroideremia. Known disorders causing leukoencephalopathy were not detected except for a partial deficiency of arylsulfatase A (17.3% of normal controls in lymphocytes and 13.7% in fibroblasts). Deficiency of arylsulfatase A activity occurs in the late infantile, juvenile, and adult forms of metachromatic leukodystrophy (MLD) which is also an inherited disorder of myelin metabolism, but because of its unstability, it occurs in normal individuals and in patients with other neurological diseases. Consequently, we suspect that this patient had partial deficiency of arylsulfatase A and choroideremia as predisposing factors for white matter degeneration.
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PMID:Choroideremia with leukoencephalopathy and arylsulfatase A pseudodeficiency. 879 Dec 55

Metachromatic leukodystrophy is a lysosomal storage disorder with an estimated incidence of 1:40,000. Magnetic resonance imaging at time of diagnosis often shows symmetric white matter involvement, sparing the arcuate fibers. A 25-month-old female child presented with a cranial neuropathy, a spastic gait, decreased leukocyte arylsulfatase-A activity, and elevated urinary sulfatides. Magnetic resonance imaging revealed multiple cranial nerve enhancement, without intraparenchymal white matter involvement.
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PMID:Isolated cranial nerve enhancement in metachromatic leukodystrophy. 1938 76