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Galactosialidosis, early infantile

MedGen UID:
865731
•Concept ID:
C4017294
•
Finding
Synonym: GALACTOSIALIDOSIS, EARLY 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

Lysosomal storage disorders as an etiology of nonimmune hydrops fetalis: A systematic review.
Iyer NS, Gimovsky AC, Ferreira CR, Critchlow E, Al-Kouatly HB
Clin Genet 2021 Nov;100(5):493-503. Epub 2021 Jul 16 doi: 10.1111/cge.14005. PMID: 34057202
Hydrops fetalis: lysosomal storage disorders in extremis.
Stone DL, Sidransky E
Adv Pediatr 1999;46:409-40. PMID: 10645471
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

Lysosomal storage disorders as an etiology of nonimmune hydrops fetalis: A systematic review.
Iyer NS, Gimovsky AC, Ferreira CR, Critchlow E, Al-Kouatly HB
Clin Genet 2021 Nov;100(5):493-503. Epub 2021 Jul 16 doi: 10.1111/cge.14005. PMID: 34057202
New CTSA mutation in early infantile galactosialidosis.
Aldámiz-Echevarría L, Couce ML, Villate O, Fernández-Marmiesse A, Piñán MÁ
Pediatr Int 2018 Aug;60(8):761-762. Epub 2018 Jul 10 doi: 10.1111/ped.13604. PMID: 29987886
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
Hydrops fetalis: lysosomal storage disorders in extremis.
Stone DL, Sidransky E
Adv Pediatr 1999;46:409-40. PMID: 10645471
Early-infantile type of galactosialidosis as a cause of heart failure and neonatal ascites.
Claeys M, Van der Hoeven M, de Die-Smulders C, Bakker JA, Offermans JP, Forget PP, Groener JE, Spaapen LJ
J Inherit Metab Dis 1999 Jun;22(5):666-7. doi: 10.1023/a:1005546501043. PMID: 10399100

Therapy

Early-infantile type of galactosialidosis as a cause of heart failure and neonatal ascites.
Claeys M, Van der Hoeven M, de Die-Smulders C, Bakker JA, Offermans JP, Forget PP, Groener JE, Spaapen LJ
J Inherit Metab Dis 1999 Jun;22(5):666-7. doi: 10.1023/a:1005546501043. PMID: 10399100
Stable expression of protective protein/cathepsin A-green fluorescent protein fusion genes in a fibroblastic cell line from a galactosialidosis patient. Model system for revealing the intracellular transport of normal and mutated lysosomal enzymes.
Naganawa Y, Itoh K, Shimmoto M, Kamei S, Takiguchi K, Doi H, Sakuraba H
Biochem J 1999 Jun 1;340 ( Pt 2)(Pt 2):467-74. doi: 10.1042/bj3400467. PMID: 10333491Free PMC Article

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
Hydrops fetalis: lysosomal storage disorders in extremis.
Stone DL, Sidransky E
Adv Pediatr 1999;46:409-40. PMID: 10645471
A case with early infantile form of galactosialidosis with unusual haematological findings.
Tekinalp G, Aliefendioğlu D, Yüce A, Cağlar M, Beck M
J Inherit Metab Dis 1999 Jun;22(5):668-9. doi: 10.1023/a:1005598517882. PMID: 10399101
Expression of cDNA encoding the human "protective protein" associated with lysosomal beta-galactosidase and neuraminidase: homology to yeast proteases.
Galjart NJ, Gillemans N, Harris A, van der Horst GT, Verheijen FW, Galjaard H, d'Azzo A
Cell 1988 Sep 9;54(6):755-64. doi: 10.1016/s0092-8674(88)90999-3. PMID: 3136930

Clinical prediction guides

Stable expression of protective protein/cathepsin A-green fluorescent protein fusion genes in a fibroblastic cell line from a galactosialidosis patient. Model system for revealing the intracellular transport of normal and mutated lysosomal enzymes.
Naganawa Y, Itoh K, Shimmoto M, Kamei S, Takiguchi K, Doi H, Sakuraba H
Biochem J 1999 Jun 1;340 ( Pt 2)(Pt 2):467-74. doi: 10.1042/bj3400467. PMID: 10333491Free 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
Early-infantile galactosialidosis: clinical, biochemical, and molecular observations in a new patient.
Zammarchi E, Donati MA, Morrone A, Donzelli GP, Zhou XY, d'Azzo A
Am J Med Genet 1996 Aug 23;64(3):453-8. doi: 10.1002/(SICI)1096-8628(19960823)64:3<453::AID-AJMG2>3.0.CO;2-Q. PMID: 8862621
Expression of cDNA encoding the human "protective protein" associated with lysosomal beta-galactosidase and neuraminidase: homology to yeast proteases.
Galjart NJ, Gillemans N, Harris A, van der Horst GT, Verheijen FW, Galjaard H, d'Azzo A
Cell 1988 Sep 9;54(6):755-64. doi: 10.1016/s0092-8674(88)90999-3. PMID: 3136930

Recent systematic reviews

Lysosomal storage disorders as an etiology of nonimmune hydrops fetalis: A systematic review.
Iyer NS, Gimovsky AC, Ferreira CR, Critchlow E, Al-Kouatly HB
Clin Genet 2021 Nov;100(5):493-503. Epub 2021 Jul 16 doi: 10.1111/cge.14005. PMID: 34057202

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