Studies on the occurrence of guanidino compounds in serum and urine of patients with epilepsy and patients with Spielmeyer-Vogt-Batten's syndrome.
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Biomedical subjects
Publications and source records attributed to C M Plum.
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Platelet lipid peroxidation was studied in normal controls, subjects with epilepsy and patients with the Spielmeyer-Vogt-Batten syndrome. The results showed wide intra- and inter-individual variation, particulary in the latter group. The mean value in Spielmeyer-Vogt-Batten syndrome was not significantly higher than the mean values for the other two groups.
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A case of congenital malformations of the extremities (deformed thumbs and great toes, dislocation of the hips, limitation of motion of the joints of the lower extremities), bilateral microphthalmia, bilateral retinal cysts, cerebral atrophy epilepsy, severe physical and mental retardation and monolobed neutrophil granulocytes is reported. A similar clinical picture has not previously been described. We assume that the patient suffers from a sublethal genetic disorder.
The purpose of the investigation presented was to study whether the lymphocytes from patients with Spielmeyer-Vogt-Batten's syndrome deviate from normal with respect to acid phosphatase activity. The distribution of the activity seems to show that the patients with Spielmeyer-Vogt-Batten's syndrome can be divided into two groups, viz. one in which the values are concentrated around the normal level, and another with increased values.
Using the method for the determination of the lipoyl dehydrogenase activity in intact erythrocytes described by Seet and Lee (1975), it was demonstrated that in patients with Spielmeyer-Vogt-Batten's disease, this activity was around the lower limit of normal. In these patients, the enzymatic activity is significantly reduced to such an extent that it may affect the function and metabolism of the erythrocytes.
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