Biochemical abnormalities in Batten's syndrome

Abstract

The present data indicate that a group of ten patients with Batten's syndrome showed reduced activity of erythrocyte glutathione (GSH) peroxidase (Px) (glutathione: H202 oxidoreductase, EC 1.1.1.9.) using H₂0₂ as peroxide donor. Assay of erythrocyte GSHPx using H₂0₂, cumene hydroperoxide and t-butyl hydroperoxide as donors also makes it possible biochemically to divide Batten's syndrome into two types: (1) one type with decreased values when H₂0₂ and cumene hydroperoxide are used, and (2) one type with increased values when f-butyl hydroperoxide is used. Furthermore an increased content of palmitic, oleic and of eicosatrienoic acid but decreased linoleic acid content was found in serum from patients with Batten syndrome. An inverse relationship between erythrocyte GSHPx and serum eicosatrienoic acid was found in the patients. Finally normal selenium levels were found in erythrocytes, but decreased values were traced in whole blood. In normal human beings a connection was found between the erythrocyte selenium content and GSHPx activity assayed by cumene hydroperoxide as a peroxide donor.

Key Words:

• Batten's syndrome
• glutathione peroxidase
• inborn error of metabolism