These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Accumulation of ganglioside Gm2 in cerebrospinal fluid of a patient with the variant AB of infantile Gm2 gangliosidosis.
    Author: Pullarkat RK, Reha H, Beratis NG.
    Journal: Pediatrics; 1981 Jul; 68(1):106-8. PubMed ID: 7243492.
    Abstract:
    Brain biopsy has been used for the diagnosis of the variant AB of infantile GM2 gangliosidosis. Accumulation of ganglioside GM2 (300 ng of neuraminic acid per milliliter) was observed in the CSF of a patient with this disorder. GM2 was found also in the CSF of a patient with classic Tay-Sachs disease. Normal CSF did not contain any measurable amounts of GM2. In addition, a glycolipid with a mobility, by thin-layer chromatography, similar to that of paragloboside was observed in the CSF of the patient with the variant AB of GM2 gangliosidosis. These findings indicate that the variant AB can be diagnosed by demonstrating accumulation of GM2 in the CSF of patients with normal hexosaminidase activity.
    [Abstract] [Full Text] [Related] [New Search]