Deficiency of Arylsulfatase A in Juvenile Metachromatic Leucodystrophy

2015 ◽  
pp. 148-149
Author(s):  
J. G. Leroy ◽  
A. van Elsen ◽  
J. E. Dumon ◽  
J. Radermecker
Keyword(s):  
Arylsulfatase A ◽  
Metachromatic Leucodystrophy

scholarly journals Pseudoarylsulfatase-A Deficiency in the Neurologically Impaired Patient

1985 ◽  
Vol 12 (3) ◽  
pp. 274-277 ◽  
Author(s):  
Kevin Farrell ◽  
D.A. Applegarth ◽  
J.R. Toone ◽  
P.M. McLeod ◽  
A.V. Savage
Keyword(s):  
Nerve Biopsy ◽  
Specific Method ◽  
Arylsulfatase A ◽  
Neurologically Impaired ◽  
Loading Test ◽  
Cultured Fibroblasts ◽  
Cerebroside Sulfate ◽  
Neurological Findings ◽  
Impaired Patient ◽  
Metachromatic Leucodystrophy

ABSTRACT:The demonstration of low arylsulfatase-A (ASA) activity in leucocytes or fibroblasts is used often to establish the diagnosis of metachromatic leucodystrophy (MLD). However, low ASA activity is observed also in pseudo-ASA deficiency which may be as common as MLD. We report two patients with pseudo ASA deficiency who had abnormal neurological findings consistent with atypical MLD. Because the measurement of ASA activity is neither a sensitive nor specific method with which to establish a diagnosis of MLD, this diagnosis should be confirmed by nerve biopsy, measurement of urinary sulfatide or a cerebroside sulfate loading test, using cultured fibroblasts.

scholarly journals Metachromatic Leucodystrophy: A Case Report

1970 ◽  
Vol 31 (2) ◽  
pp. 143-145 ◽  
Author(s):  
Subhana Karki ◽  
Ganesh Kumar Rai ◽  
Raju Kafle
Keyword(s):  
Case Report ◽  
Autosomal Recessive ◽  
Metachromatic Leukodystrophy ◽  
Neurodegenerative Disorder ◽  
Neurological Symptoms ◽  
Arylsulfatase A ◽  
Live Births ◽  
Metachromatic Leucodystrophy ◽  
Deficient Activity

Metachromatic leukodystrophy (MLD) is an autosomal recessive neurodegenerative disorder characterized by deficient activity of the enzyme arylsulfatase-A. Deficiency of this enzyme results in intralysosomal storage of sphingolipid cerebroside 3-sulfates (sulfatides), which are abundant in myelin and neurons. A pathological hallmark of MLD is demyelination and neurodegeneration, causing various and ultimately lethal neurological symptoms. Its frequency is estimated to be 1/40,000 live births. The disease encompasses three clinical subtypes: late infantile (40% of the patients with MLD), juvenile (40%), and adult (20%).   DOI: 10.3126/jnps.v31i2.4644 J Nep Paedtr Soc 2010;31(2):143-145

scholarly journals Arylsulfatase A: An Important Metabolic Factor in Pathophysiology of Different Diseases

2015 ◽  
Vol 61 (3) ◽  
pp. 233-235 ◽  
Author(s):  
Kovacs Zsolt ◽  
Tripon Robert ◽  
Nemes Nagy Eniko ◽  
Balogh Samarghitan Victor ◽  
Tilinca Mariana ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Kidney Disease ◽  
Lysosomal Enzyme ◽  
Autosomal Recessive Disorder ◽  
Arylsulfatase A ◽  
Parkinson Syndrome ◽  
Metachromatic Leucodystrophy ◽  
Enzyme Dosage ◽  
End Stage

Abstract Arylsulfatase A (ARSA) is a lysosomal enzyme that plays an important role in catalysis of degradation of cerebrosidesulphate. The deficiency of this lysosomal enzyme causes an autosomal recessive disorder, called metachromatic leucodystrophy. However, a low ARSA activity can be observed in clinically healthy people, called ARSA pseudodeficiency. In our study we investigated the possible linkage between ARSA activity and sulfatide deficiency causing characteristic aspects of degenerative diseases, such as end stage kidney disease, type 2 Diabetes mellitus, Parkinson syndrome, prostate cancer and HIV (Human Immunodeficiency Virus) infection. We used a spectrophotometric method to determine the activity of ARSA. This method of enzyme dosage is based on a 4 hour long hydrolysis of the ARSA enzyme on 4-nitrocatechol sulfate (p-NCS) substrate. The unit of this measurement is nmol/ml/4h. Our findings show significant values in type 2 diabetes, Parkinson syndrome and chronic kidney disease. The importance of sulfatide in these diseases is well-known, thus presumably the variation of the ARSA’s activity might play an important role in the pathophysiology of these diseases, involving a vicious cycle between sulfatide degradation andthese diseases.

Puberty or heridity?

1993 ◽  
Vol 5 (1) ◽  
pp. 19-22
Author(s):  
R.A.H. Van Dalen ◽  
J.A. Den Boer
Keyword(s):  
Autosomal Recessive ◽  
Young Male ◽  
Arylsulfatase A ◽  
Review Of The Literature ◽  
Diagnostic Aspects ◽  
Personality Changes ◽  
Neuropsychiatric Diseases ◽  
Metachromatic Leucodystrophy ◽  
Diagnostic Framework ◽  
Sulfatide Accumulation

SummaryIn this paper a case history is described of a young male patient who gradually developed progressive personality changes and psychiatric complaints. This was subsequently followed by neurological symptoms and dementia. The patient appeared to be suffering from the adult form of metachromatic leucodystrophy (MLD). MLD is a rare disease with an autosomal-recessive mode of inheritance. The pathogenesis involves a deficiency of the enzyme arylsulfatase-A, causing sulfatide accumulation in (among others) nervous tissue.Based upon a review of the literature several subtypes of MLD are mentioned. Both diagnostic aspects and therapeutic possibilities are critically discussed. It is argued that in cases of psychiatric complaints which do not easily fit in the diagnostic framework of the DSM-III-R in adolescence, the existence of neuropsychiatric diseases should be evaluated.

scholarly journals Intravenous arylsulfatase A in metachromatic leukodystrophy: a phase 1/2 study

2020 ◽  
Author(s):  
Christine í Dali ◽  
Samuel Groeschel ◽  
Mihai Moldovan ◽  
Mohamed H. Farah ◽  
Ingeborg Krägeloh‐Mann ◽  
...  
Keyword(s):  
Metachromatic Leukodystrophy ◽  
Phase 1 ◽  
Arylsulfatase A

scholarly journals Translational control of arylsulfatase A expression in mouse testis.

1994 ◽  
Vol 269 (37) ◽  
pp. 23255-23261
Author(s):  
J. Kreysing ◽  
A. Polten ◽  
G. Lukatela ◽  
U. Matzner ◽  
K. von Figura ◽  
...  
Keyword(s):  
Translational Control ◽  
Mouse Testis ◽  
Arylsulfatase A

Three Novel Mutant Arylsulfatase A Alleles Causing Metachromatic Leukodystrophy

2004 ◽  
Vol 29 (5) ◽  
pp. 933-942 ◽  
Author(s):  
Afshin Yaghootfam ◽  
Nicole Baumann ◽  
Andreas Schwarz ◽  
Volkmar Gieselmann
Keyword(s):  
Metachromatic Leukodystrophy ◽  
Arylsulfatase A

Peripheral Nerve Changes in the Diagnosis of Metachromatic Leucodystrophy

1962 ◽  
Vol 51 (s135) ◽  
pp. 63-71 ◽  
Author(s):  
BENGT HAGBERG ◽  
PATRICK SOURANDER ◽  
LARS THORÉN
Keyword(s):  
Peripheral Nerve ◽  
Metachromatic Leucodystrophy
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