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  • Title: A practical chromogenic procedure for the diagnosis of Krabbe's disease.
    Author: Gal AE, Brady RO, Pentchev PG, Furbish FS, Suzuki K, Tanaka H, Schneider EL.
    Journal: Clin Chim Acta; 1977 May 16; 77(1):53-9. PubMed ID: 17489.
    Abstract:
    Krabbe's disease is caused by a deficiency of galactocerebrosidase in organs and tissues. Determinations of galactocerebrosidase activity had required the use of galactocerebroside labeled with radiocarbon or radiohydrogen. These materials are expensive and their use is restricted to laboratories with radioactive counting facilities. An analogue of galactocerebroside, 2-hexadecanoylamino-4-nitrophenyl-beta-D-galactopyranoside, was synthesized. The hydrolysis of this analogue by extracts of tissues and cells from patients with Krabbe's disease is greatly reduced from normal levels. Cultured skin fibroblasts preparations derived from heterozygous carriers of Krabbe's disease have an intermediate level of hydrolytic activity. Thus, the analogue is a reliable chromogenic reagent for the diagnosis of patients with Krabbe's disease and for the detection of heterozygous carriers of the Krabbe trait.
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