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Reduced tissue galactocerebrosidase activity

MedGen UID:
1815074
Concept ID:
C5706168
Finding
Synonym: Reduced galactocerebrosidase activity
 
HPO: HP:0034322

Definition

Concentration or activity of galactocerebrosidase (EC 3.2.1.46) below the lower limit of normal. This enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduced tissue galactocerebrosidase activity

Conditions with this feature

Galactosylceramide beta-galactosidase deficiency
MedGen UID:
44131
Concept ID:
C0023521
Disease or Syndrome
Krabbe disease comprises a spectrum ranging from infantile-onset disease (i.e., onset of extreme irritability, spasticity, and developmental delay before age 12 months) to later-onset disease (i.e., onset of manifestations after age 12 months and as late as the seventh decade). Although historically 85%-90% of symptomatic individuals with Krabbe disease diagnosed by enzyme activity alone have infantile-onset Krabbe disease and 10%-15% have later-onset Krabbe disease, the experience with newborn screening (NBS) suggests that the proportion of individuals with possible later-onset Krabbe disease is higher than previously thought. Infantile-onset Krabbe disease is characterized by normal development in the first few months followed by rapid severe neurologic deterioration; the average age of death is 24 months (range 8 months to 9 years). Later-onset Krabbe disease is much more variable in its presentation and disease course.

Recent clinical studies

Etiology

Goebel HH, Harzer K, Ernst JP, Bohl J, Klein H
J Child Neurol 1990 Oct;5(4):299-307. doi: 10.1177/088307389000500405. PMID: 2174071
Giles L, Cooper A, Fowler B, Sardharwalla IB, Donnai P
Prenat Diagn 1987 Jun;7(5):329-32. doi: 10.1002/pd.1970070506. PMID: 3615358
Svennerholm L, Häkansson G, Vanier MT
Acta Paediatr Scand 1975 Jul;64(4):649-56. doi: 10.1111/j.1651-2227.1975.tb03897.x. PMID: 1155085

Diagnosis

Iacono D, Koga S, Peng H, Manavalan A, Daiker J, Castanedes-Casey M, Martin NB, Herdt AR, Gelb MH, Dickson DW, Lee CW
Neurobiol Dis 2022 Nov;174:105862. Epub 2022 Sep 14 doi: 10.1016/j.nbd.2022.105862. PMID: 36113749Free PMC Article
Tonazzini I, Cerri C, Del Grosso A, Antonini S, Allegra M, Caleo M, Cecchini M
Biomolecules 2020 Dec 23;11(1) doi: 10.3390/biom11010007. PMID: 33374753Free PMC Article
Nashabat M, Al-Khenaizan S, Alfadhel M
Am J Case Rep 2019 May 4;20:643-646. doi: 10.12659/AJCR.914275. PMID: 31053700Free PMC Article
Giles L, Cooper A, Fowler B, Sardharwalla IB, Donnai P
Prenat Diagn 1987 Jun;7(5):329-32. doi: 10.1002/pd.1970070506. PMID: 3615358
Thomas PK, Halpern JP, King RH, Patrick D
Ann Neurol 1984 Nov;16(5):618-20. doi: 10.1002/ana.410160515. PMID: 6095734

Therapy

Neri M, Ricca A, di Girolamo I, Alcala'-Franco B, Cavazzin C, Orlacchio A, Martino S, Naldini L, Gritti A
Stem Cells 2011 Oct;29(10):1559-71. doi: 10.1002/stem.701. PMID: 21809420Free PMC Article
Farooqui AA, Horrocks LA
Neurochem Pathol 1984 Fall;2(3):189-218. doi: 10.1007/BF02834352. PMID: 6152665

Prognosis

Matthes F, Andersson C, Stein A, Eistrup C, Fogh J, Gieselmann V, Wenger DA, Matzner U
Exp Neurol 2015 Sep;271:36-45. Epub 2015 May 6 doi: 10.1016/j.expneurol.2015.04.020. PMID: 25956830
Goebel HH, Harzer K, Ernst JP, Bohl J, Klein H
J Child Neurol 1990 Oct;5(4):299-307. doi: 10.1177/088307389000500405. PMID: 2174071

Clinical prediction guides

Iacono D, Koga S, Peng H, Manavalan A, Daiker J, Castanedes-Casey M, Martin NB, Herdt AR, Gelb MH, Dickson DW, Lee CW
Neurobiol Dis 2022 Nov;174:105862. Epub 2022 Sep 14 doi: 10.1016/j.nbd.2022.105862. PMID: 36113749Free PMC Article
Belleri M, Presta M
J Neurosci Res 2016 Nov;94(11):1359-67. Epub 2016 Apr 1 doi: 10.1002/jnr.23744. PMID: 27037626

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