Literature summary for 3.2.1.46 extracted from

Liao, H.C.; Spacil, Z.; Ghomashchi, F.; Escolar, M.L.; Kurtzberg, J.; Orsini, J.J.; Turecek, F.; Scott, C.R.; Gelb, M.H.
Lymphocyte galactocerebrosidase activity by LC-MS/MS for post-newborn screening evaluation of Krabbe disease (2017), Clin. Chem., 63, 1363-1369 .

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Application

Application	Comment	Organism
diagnostics	an assay is developed that can measure small amounts of residual galactosylcerebrosidase activity in leukocytes with high accuracy and can contribute, along with genotyping, biomarker analysis, and neurological imaging, a better plan for post-newborn screening follow-up for Krabbe disease	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P54803	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
lymphocyte	-	Homo sapiens	-

Synonyms

Synonyms	Comment	Organism
GALC	-	Homo sapiens

General Information

General Information	Comment	Organism
malfunction	Krabbe disease (globoid cell leukodystrophy) is an often fatal lysosomal storage disease caused by the deficiency of the enzyme galactocerebrosidase, resulting in the loss of the myelin sheath in the central nervous system	Homo sapiens

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Release 2023.1 (January 2023)