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 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.
...
PMID:Choroideremia with leukoencephalopathy and arylsulfatase A pseudodeficiency. 879 Dec 55
