VOPROSY MEDITSINSKOI KHIMII (ISSN 0042-8809)

Biochemical diagnosis of globoid cell leukodystrophy (Krabbe's disease)

   
Tsvetkova I.V., Zolotukhina T.V., Rozenfel'd R.A.
PubMed Id: 2860752
Year: 1985  Volume: 31  Issue: 2  Pages: 128-130
beta-Galactosylceramidase activity was deficient in leukocytes of a 5-month old child with neuro-degenerative disease. The activities of beta-galactosidase and arylsulphatase A were within normal limits. The beta-galactosylcerebrosidase activity in the mother's and father's leukocytes was 25% and 68%, respectively of the mean control values. A sharp decrease of beta-galactosylceramidase activity was found in cultured skin fibroblasts of the child. The data obtained indicate that the child suffered from globoid cell leukodystrophy (Krabbe's disease). The diagnosis was confirmed after liver and brain autopsy. The beta-galactosylceramidase was not revealed in these tissues. Typical globoid cells were observed in microscopical examination of the brain.
Download PDF:  
Citation:

Tsvetkova, I. V., Zolotukhina, T. V., Rozenfel'd, R. A. (1985). Biochemical diagnosis of globoid cell leukodystrophy (Krabbe's disease). Voprosy Meditsinskoi Khimii, 31(2), 128-130.
References
 2002 (vol 48)
 2001 (vol 47)
 2000 (vol 46)
 1999 (vol 45)
 1998 (vol 44)
 1997 (vol 43)
 1996 (vol 42)
 1995 (vol 41)
 1994 (vol 40)
 1993 (vol 39)
 1992 (vol 38)
 1991 (vol 37)
 1990 (vol 36)
 1989 (vol 35)
 1988 (vol 34)
 1987 (vol 33)
 1986 (vol 32)
 1985 (vol 31)