Cerebrospinal fluid enzymes in central nervous system lipidoses (with particular reference to amaurotic family idiocy).

Abstract

Summary1) Simultaneous determinations of glutamic oxalacetic transaminase (GOT), aldolase and lactic dehydrogenase (LD) were estimated of sera and cerebrospinal fluid (CSF) derived from 9 cases of infantile Amaurotic Family Idiocy (IAFI), 2 cases of Niemann-Pick's Disease (NPD) and 33 control patients with other neurologic disorders. 2) Parallel values of GOT and LD were invariably elevated in IAFI, while only the serum and CSF GOT were increased in NPD. The CSF aldolase was usually elevated in all cases of CNS lipidosis, while serum aldolase levels were but slightly increased. Significant CSF enzyme rises were also noted in occasional control patients with actively progressive cerebral degeneration. 3) The data suggest that nervous system necrosis incident to the lipidoses may be biochemically distinguished from other forms of neural degeneration by the analysis of multiple enzyme levels in serum and CSF.