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ARYLSULFATASE A PSEUDODEFICIENCY, SEVERE

MedGen UID:
865532
•Concept ID:
C4017095
•
Finding
OMIM®: 607574

Professional guidelines

PubMed

Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment.
Wu THY, Brown HA, Church HJ, Kershaw CJ, Hutton R, Egerton C, Cooper J, Tylee K, Cohen RN, Gokhale D, Ram D, Morton G, Henderson M, Bigger BW, Jones SA
Mol Genet Metab 2024 May;142(1):108349. Epub 2024 Feb 20 doi: 10.1016/j.ymgme.2024.108349. PMID: 38458124
Arylsulfatase a gene polymorphisms in relapsing remitting multiple sclerosis: genotype-phenotype correlation and estimation of disease progression.
Baronica KB, Mlinac K, Ozretić D, Vladić A, Bognar SK
Coll Antropol 2011 Jan;35 Suppl 1:11-6. PMID: 21648305

Recent clinical studies

Etiology

Arylsulfatase a gene polymorphisms in relapsing remitting multiple sclerosis: genotype-phenotype correlation and estimation of disease progression.
Baronica KB, Mlinac K, Ozretić D, Vladić A, Bognar SK
Coll Antropol 2011 Jan;35 Suppl 1:11-6. PMID: 21648305
Novel mutations associated with metachromatic leukodystrophy: phenotype and expression studies in nine Czech and Slovak patients.
Berná L, Gieselmann V, Poupetová H, Hrebícek M, Elleder M, Ledvinová J
Am J Med Genet A 2004 Sep 1;129A(3):277-81. doi: 10.1002/ajmg.a.30118. PMID: 15326627
Practical suggestions in diagnosing metachromatic leukodystrophy in probands and in testing family members.
Tylki-Szymańska AT, Czartoryska B, Lugowska A
Eur Neurol 1998 Aug;40(2):67-70. doi: 10.1159/000007960. PMID: 9693234
Metachromatic leucodystrophy (MLD) in a patient with a constitutional ring chromosome 22.
Coulter-Mackie MB, Rip J, Ludman MD, Beis J, Cole DE
J Med Genet 1995 Oct;32(10):787-91. doi: 10.1136/jmg.32.10.787. PMID: 8558556Free PMC Article

Diagnosis

Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment.
Wu THY, Brown HA, Church HJ, Kershaw CJ, Hutton R, Egerton C, Cooper J, Tylee K, Cohen RN, Gokhale D, Ram D, Morton G, Henderson M, Bigger BW, Jones SA
Mol Genet Metab 2024 May;142(1):108349. Epub 2024 Feb 20 doi: 10.1016/j.ymgme.2024.108349. PMID: 38458124
Arylsulfatase a gene polymorphisms in relapsing remitting multiple sclerosis: genotype-phenotype correlation and estimation of disease progression.
Baronica KB, Mlinac K, Ozretić D, Vladić A, Bognar SK
Coll Antropol 2011 Jan;35 Suppl 1:11-6. PMID: 21648305
Biochemical profiling to predict disease severity in metachromatic leukodystrophy.
Tan MA, Fuller M, Zabidi-Hussin ZA, Hopwood JJ, Meikle PJ
Mol Genet Metab 2010 Feb;99(2):142-8. Epub 2009 Sep 15 doi: 10.1016/j.ymgme.2009.09.006. PMID: 19815439
An unusual homozygous arylsulfatase: a pseudodeficiency in a metachromatic leukodystrophy Tunisian patient.
Tinsa F, Caillaud C, Vanier MT, Bousnina D, Boussetta K, Bousnina S
J Child Neurol 2010 Jan;25(1):82-6. Epub 2009 Jul 2 doi: 10.1177/0883073809334382. PMID: 19574581
Molecular genetics of metachromatic leukodystrophy.
Gieselmann V, Polten A, Kreysing J, von Figura K
J Inherit Metab Dis 1994;17(4):500-9. doi: 10.1007/BF00711364. PMID: 7967499

Prognosis

Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment.
Wu THY, Brown HA, Church HJ, Kershaw CJ, Hutton R, Egerton C, Cooper J, Tylee K, Cohen RN, Gokhale D, Ram D, Morton G, Henderson M, Bigger BW, Jones SA
Mol Genet Metab 2024 May;142(1):108349. Epub 2024 Feb 20 doi: 10.1016/j.ymgme.2024.108349. PMID: 38458124
Biochemical profiling to predict disease severity in metachromatic leukodystrophy.
Tan MA, Fuller M, Zabidi-Hussin ZA, Hopwood JJ, Meikle PJ
Mol Genet Metab 2010 Feb;99(2):142-8. Epub 2009 Sep 15 doi: 10.1016/j.ymgme.2009.09.006. PMID: 19815439
An unusual homozygous arylsulfatase: a pseudodeficiency in a metachromatic leukodystrophy Tunisian patient.
Tinsa F, Caillaud C, Vanier MT, Bousnina D, Boussetta K, Bousnina S
J Child Neurol 2010 Jan;25(1):82-6. Epub 2009 Jul 2 doi: 10.1177/0883073809334382. PMID: 19574581
Molecular basis of late infantile metachromatic leukodystrophy in the Habbanite Jews.
Zlotogora J, Bach G, Bösenberg C, Barak Y, von Figura K, Gieselmann V
Hum Mutat 1995;5(2):137-43. doi: 10.1002/humu.1380050207. PMID: 7749412
Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease.
Leinekugel P, Michel S, Conzelmann E, Sandhoff K
Hum Genet 1992 Mar;88(5):513-23. doi: 10.1007/BF00219337. PMID: 1348043

Clinical prediction guides

Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment.
Wu THY, Brown HA, Church HJ, Kershaw CJ, Hutton R, Egerton C, Cooper J, Tylee K, Cohen RN, Gokhale D, Ram D, Morton G, Henderson M, Bigger BW, Jones SA
Mol Genet Metab 2024 May;142(1):108349. Epub 2024 Feb 20 doi: 10.1016/j.ymgme.2024.108349. PMID: 38458124
Arylsulfatase a gene polymorphisms in relapsing remitting multiple sclerosis: genotype-phenotype correlation and estimation of disease progression.
Baronica KB, Mlinac K, Ozretić D, Vladić A, Bognar SK
Coll Antropol 2011 Jan;35 Suppl 1:11-6. PMID: 21648305
Biochemical profiling to predict disease severity in metachromatic leukodystrophy.
Tan MA, Fuller M, Zabidi-Hussin ZA, Hopwood JJ, Meikle PJ
Mol Genet Metab 2010 Feb;99(2):142-8. Epub 2009 Sep 15 doi: 10.1016/j.ymgme.2009.09.006. PMID: 19815439
Frequency of arylsulphatase A pseudodeficiency associated mutations in a healthy population.
Barth ML, Ward C, Harris A, Saad A, Fensom A
J Med Genet 1994 Sep;31(9):667-71. doi: 10.1136/jmg.31.9.667. PMID: 7815433Free PMC Article
Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease.
Leinekugel P, Michel S, Conzelmann E, Sandhoff K
Hum Genet 1992 Mar;88(5):513-23. doi: 10.1007/BF00219337. PMID: 1348043

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