Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.1.6.1 (sulfatase)
 3,205 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 20-year-old female had psychiatric symptoms of organic brain disease for five years but without clinical or neurophysiological signs of polyneuropathy. Late-onset metachromatic leukodystrophy was confirmed by finding severely reduced arylsulfatase A activity in her urine and leukocytes, marked excretion of sulfatides in the urine and the presence of lysosomal residual bodies in a sural nerve biopsy. This case report emphasizes the need to screen patients with early onset dementia of unknown origin or atypical hebephrenia, who are often confined to mental institutions early in the course of their disease.
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PMID:Late-onset metachromatic leukodystrophy: diagnostic problems elucidated by a case report. 618 81

We report a patient with metachromatic leukodystrophy (MLD) with a first manifestation of homicide. On admission the patient showed a hebephrenia-like syndrome with inappropriate affect, thought disorder and behavioral changes. Magnetic resonance tomography (MRT) findings suggested a diagnosis of MLD, which was confirmed by a decreased activity of leucocyte arylsulfatase A and an excessive urinary sulfatide excretion.
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PMID:[Homicide and hebephrenia-like syndrome in metachromatic leukodystrophy]. 1023 17