Chemistry of a case of juvenile amaurotic idiocy.

Abstract

CHEMICAL analysis which would give a hint of the nature of juvenile amaurotic family idiocy is still lacking. The condition is considered to be a metabolic disorder because of the abnormal intracellular deposits in the ganglion cells. Klenk1 found no increase in the total amount of gangliosides; but Cumings2 reported an increase in the neuraminic acid level in the cortex in adult cases of amaurotic family idiocy. Tingey3, in his routine carbohydrate analysis of the brain of the present case (a 15-year-old boy), found no increase in neuraminic acid and no significant abnormality. The present investigation was conducted primarily to examine the nature of the glycolipids and polysaccharides present both in the brain and the liver.