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Galactosialidosis, late infantile

MedGen UID:
865729
•Concept ID:
C4017292
•
Finding
Synonym: GALACTOSIALIDOSIS, LATE INFANTILE
 
OMIM®: 613111

Professional guidelines

PubMed

Chemical chaperone treatment for galactosialidosis: Effect of NOEV on β-galactosidase activities in fibroblasts.
Hossain MA, Higaki K, Shinpo M, Nanba E, Suzuki Y, Ozono K, Sakai N
Brain Dev 2016 Feb;38(2):175-80. Epub 2015 Aug 7 doi: 10.1016/j.braindev.2015.07.006. PMID: 26259553

Recent clinical studies

Etiology

Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis.
Zhou XY, van der Spoel A, Rottier R, Hale G, Willemsen R, Berry GT, Strisciuglio P, Morrone A, Zammarchi E, Andria G, d'Azzo A
Hum Mol Genet 1996 Dec;5(12):1977-87. doi: 10.1093/hmg/5.12.1977. PMID: 8968752
Cathepsin A deficiency in galactosialidosis: studies of patients and carriers in 16 families.
Kleijer WJ, Geilen GC, Janse HC, van Diggelen OP, Zhou XY, Galjart NJ, Galjaard H, d'Azzo A
Pediatr Res 1996 Jun;39(6):1067-71. doi: 10.1203/00006450-199606000-00022. PMID: 8725271

Diagnosis

Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content.
Tonin R, Caciotti A, Procopio E, Fischetto R, Deodato F, Mancardi MM, Di Rocco M, Ardissone A, Salviati A, Marangi A, Strisciuglio P, Mangone G, Casini A, Ricci S, Fiumara A, Parini R, Pavone FS, Guerrini R, Calamai M, Morrone A
Sci Rep 2019 Nov 27;9(1):17684. doi: 10.1038/s41598-019-53995-5. PMID: 31776384Free PMC Article
LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease.
Pettazzoni M, Froissart R, Pagan C, Vanier MT, Ruet S, Latour P, Guffon N, Fouilhoux A, Germain DP, Levade T, Vianey-Saban C, Piraud M, Cheillan D
PLoS One 2017;12(7):e0181700. Epub 2017 Jul 27 doi: 10.1371/journal.pone.0181700. PMID: 28749998Free PMC Article
A Turkish case of galactosialidosis with a new homozygous mutation in CTSA gene.
Kartal A, Aydın K
Metab Brain Dis 2017 Aug;32(4):973-975. Epub 2017 May 30 doi: 10.1007/s11011-017-0042-0. PMID: 28555253
Chemical chaperone treatment for galactosialidosis: Effect of NOEV on β-galactosidase activities in fibroblasts.
Hossain MA, Higaki K, Shinpo M, Nanba E, Suzuki Y, Ozono K, Sakai N
Brain Dev 2016 Feb;38(2):175-80. Epub 2015 Aug 7 doi: 10.1016/j.braindev.2015.07.006. PMID: 26259553
Cathepsin A deficiency in galactosialidosis: studies of patients and carriers in 16 families.
Kleijer WJ, Geilen GC, Janse HC, van Diggelen OP, Zhou XY, Galjart NJ, Galjaard H, d'Azzo A
Pediatr Res 1996 Jun;39(6):1067-71. doi: 10.1203/00006450-199606000-00022. PMID: 8725271

Prognosis

Ultrastructural change of ligamentum flavum in galactosialidosis.
Nakama S, Hagiwara S, Kato M, Kanaya Y, Watanabe H
Eur Spine J 2014 May;23 Suppl 2:201-5. Epub 2013 Aug 30 doi: 10.1007/s00586-013-2981-4. PMID: 23989749
A case of galactosialidosis with a homozygous Q49R point mutation.
Matsumoto N, Gondo K, Kukita J, Higaki K, Paragison RC, Nanba E
Brain Dev 2008 Oct;30(9):595-8. Epub 2008 Apr 18 doi: 10.1016/j.braindev.2008.01.012. PMID: 18396002

Clinical prediction guides

LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease.
Pettazzoni M, Froissart R, Pagan C, Vanier MT, Ruet S, Latour P, Guffon N, Fouilhoux A, Germain DP, Levade T, Vianey-Saban C, Piraud M, Cheillan D
PLoS One 2017;12(7):e0181700. Epub 2017 Jul 27 doi: 10.1371/journal.pone.0181700. PMID: 28749998Free PMC Article
Early-infantile galactosialidosis with multiple brain infarctions: morphological, neuropathological and neurochemical findings.
Nordborg C, Kyllerman M, Conradi N, Månsson JE
Acta Neuropathol 1997 Jan;93(1):24-33. doi: 10.1007/s004010050579. PMID: 9006654
Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis.
Zhou XY, van der Spoel A, Rottier R, Hale G, Willemsen R, Berry GT, Strisciuglio P, Morrone A, Zammarchi E, Andria G, d'Azzo A
Hum Mol Genet 1996 Dec;5(12):1977-87. doi: 10.1093/hmg/5.12.1977. PMID: 8968752
Late-infantile type galactosialidosis. Histopathology of the retina and optic nerve.
Usui T, Sawaguchi S, Abe H, Iwata K, Oyanagi K
Arch Ophthalmol 1991 Apr;109(4):542-6. doi: 10.1001/archopht.1991.01080040110040. PMID: 1901485
Galactosialidosis: neuropathological findings in a case of the late-infantile type.
Oyanagi K, Ohama E, Miyashita K, Yoshino H, Miyatake T, Yamazaki M, Ikuta F
Acta Neuropathol 1991;82(5):331-9. doi: 10.1007/BF00296543. PMID: 1662853

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