U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

ARYLSULFATASE A PSEUDODEFICIENCY, INTERMEDIATE

MedGen UID:
865533
•Concept ID:
C4017096
•
Finding
OMIM®: 607574

Recent clinical studies

Etiology

Compound heterozygosity for metachromatic leukodystrophy and arylsulfatase A pseudodeficiency alleles is not associated with progressive neurological disease.
Penzien JM, Kappler J, Herschkowitz N, Schuknecht B, Leinekugel P, Propping P, Tønnesen T, Lou H, Moser H, Zierz S
Am J Hum Genet 1993 Mar;52(3):557-64. PMID: 8095368Free PMC Article

Diagnosis

Determination of arylsulfatase A pseudodeficiency allele and haplotype frequency in the Tunisian population.
Ben Halim N, Dorboz I, Kefi R, Kharrat N, Eymard-Pierre E, Nagara M, Romdhane L, Ben Alaya-Bouafif N, Rebai A, Miladi N, Boespflug-Tanguy O, Abdelhak S
Neurol Sci 2016 Mar;37(3):403-9. Epub 2015 Nov 14 doi: 10.1007/s10072-015-2417-5. PMID: 26577183
Compound heterozygosity for metachromatic leukodystrophy and arylsulfatase A pseudodeficiency alleles is not associated with progressive neurological disease.
Penzien JM, Kappler J, Herschkowitz N, Schuknecht B, Leinekugel P, Propping P, Tønnesen T, Lou H, Moser H, Zierz S
Am J Hum Genet 1993 Mar;52(3):557-64. PMID: 8095368Free PMC Article
Probable metachromatic leukodystrophy/pseudodeficiency compound heterozygote at the arylsulfatase A locus with neurological and psychiatric symptomatology.
Hohenschutz C, Friedl W, Schlör KH, Waheed A, Conzelmann E, Sandhoff K, Propping P
Am J Med Genet 1988 Sep;31(1):169-75. doi: 10.1002/ajmg.1320310120. PMID: 2906225

Clinical prediction guides

Determination of arylsulfatase A pseudodeficiency allele and haplotype frequency in the Tunisian population.
Ben Halim N, Dorboz I, Kefi R, Kharrat N, Eymard-Pierre E, Nagara M, Romdhane L, Ben Alaya-Bouafif N, Rebai A, Miladi N, Boespflug-Tanguy O, Abdelhak S
Neurol Sci 2016 Mar;37(3):403-9. Epub 2015 Nov 14 doi: 10.1007/s10072-015-2417-5. PMID: 26577183
Compound heterozygosity for metachromatic leukodystrophy and arylsulfatase A pseudodeficiency alleles is not associated with progressive neurological disease.
Penzien JM, Kappler J, Herschkowitz N, Schuknecht B, Leinekugel P, Propping P, Tønnesen T, Lou H, Moser H, Zierz S
Am J Hum Genet 1993 Mar;52(3):557-64. PMID: 8095368Free PMC Article
Probable metachromatic leukodystrophy/pseudodeficiency compound heterozygote at the arylsulfatase A locus with neurological and psychiatric symptomatology.
Hohenschutz C, Friedl W, Schlör KH, Waheed A, Conzelmann E, Sandhoff K, Propping P
Am J Med Genet 1988 Sep;31(1):169-75. doi: 10.1002/ajmg.1320310120. PMID: 2906225

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...