ISSN:
1432-0533
Keywords:
Pyroglutamic aciduria
;
5-Oxoprolinuria
;
Glutathione deficiency
;
Encephalopathy
;
Cerebellar atrophy
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Summary The clinical and pathologic features of a male patient with generalized glutathione deficiency and pyroglutamic aciduria are presented. The patient died at the age of 28 years. He was mentally retarded from infancy and developed progressive tremor, retardation of movement, and ataxia as from the age of 16. Neuropathologic examination of the brain disclosed a selective atrophy of the granule cell layer of the cerebellum and focal lesions in the right frontoparietal cortex and bilaterally in the visual cortex and the thalamus. The type and distribution of the lesions resembled those seen after mercury intoxication. However, in our patient the damage was probably caused by the lack of protection by glutathione against oxidative damage in the brain. Possible treatment of this rare metabolic disorder might include external supply of an antioxidant, e.g., a thiol capable of penetrating the blood brain barrier.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00705812
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