Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:3.1.6.1 (
sulfatase
)
3,205
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
A 10-year-old speechless, mentally deficient male, with low
arylsulfatase A
(
ARSA
) activity, and presumably, methachromatic leukodystrophy, underwent genetic evaluation. As the clinical picture was not compatible with this diagnosisan
ARSA
gene and chromosome analysis were performed, showing the presence of a pseudodeficiency
ARSA
allele and a de novo apparently balanced t(16;22)(
p11
.2;q13) translocation. A deletion on the long arm of chromosome 22 encompassing the
ARSA
gene, as shown by FISH and array-CGH, indicated a 22q13 deletion syndrome. This case illustrates the importance of detailed cytogenetic investigation in patients presenting low
arylsulfatase A
activity and atypical/unspecific clinical features.
...
PMID:A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22): An illustrative case in the investigation of patients with low ARSA activity. 2288 90
