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Galactosialidosis, adult

MedGen UID:
865730
•Concept ID:
C4017293
•
Finding
Synonym: GALACTOSIALIDOSIS, ADULT
 
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 disease spectrum in nonimmune hydrops fetalis: a retrospective case control study.
Al-Kouatly HB, Felder L, Makhamreh MM, Kass SL, Vora NL, Berghella V, Berger S, Wenger DA, Luzi P
Prenat Diagn 2020 May;40(6):738-745. Epub 2020 Mar 20 doi: 10.1002/pd.5678. PMID: 32134517Free PMC Article
Quantitative natural history characterization in a cohort of 142 published cases of patients with galactosialidosis-A cross-sectional study.
Sláma T, Garbade SF, Kölker S, Hoffmann GF, Ries M
J Inherit Metab Dis 2019 Mar;42(2):295-302. Epub 2019 Jan 28 doi: 10.1002/jimd.12010. PMID: 30693535
Neuronal and glial accumulation of alpha- and beta-synucleins in human lipidoses.
Suzuki K, Iseki E, Togo T, Yamaguchi A, Katsuse O, Katsuyama K, Kanzaki S, Shiozaki K, Kawanishi C, Yamashita S, Tanaka Y, Yamanaka S, Hirayasu Y
Acta Neuropathol 2007 Nov;114(5):481-9. Epub 2007 Jul 25 doi: 10.1007/s00401-007-0264-z. PMID: 17653558
Investigation of lysosomal storage diseases in nonimmune hydrops fetalis.
Burin MG, Scholz AP, Gus R, Sanseverino MT, Fritsh A, Magalhães JA, Timm F, Barrios P, Chesky M, Coelho JC, Giugliani R
Prenat Diagn 2004 Aug;24(8):653-7. doi: 10.1002/pd.967. PMID: 15305357
Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes.
Itoh K, Naganawa Y, Matsuzawa F, Aikawa S, Doi H, Sasagasako N, Yamada T, Kira J, Kobayashi T, Pshezhetsky AV, Sakuraba H
J Hum Genet 2002;47(1):29-37. doi: 10.1007/s10038-002-8652-7. PMID: 11829139

Diagnosis

Quantitative natural history characterization in a cohort of 142 published cases of patients with galactosialidosis-A cross-sectional study.
Sláma T, Garbade SF, Kölker S, Hoffmann GF, Ries M
J Inherit Metab Dis 2019 Mar;42(2):295-302. Epub 2019 Jan 28 doi: 10.1002/jimd.12010. PMID: 30693535
Fundus autofluorescence imaging in a patient with the juvenile form of galactosialidosis.
Yamazaki R, Tsunoda K, Fujinami K, Noda T, Tsubota K
Ophthalmic Surg Lasers Imaging Retina 2014 May-Jun;45(3):259-61. Epub 2014 Apr 29 doi: 10.3928/23258160-20140425-01. PMID: 24779613
Could GSD type I expand the spectrum of disorders with elevated plasma chitotriosidase activity?
Tümer L, Kasapkara ÇS, Biberoğlu G, Ezgü F, Hasanoğlu A
J Pediatr Endocrinol Metab 2013;26(11-12):1149-52. doi: 10.1515/jpem-2013-0066. PMID: 23813353
Identification of urinary oligosaccharides by matrix-assisted laser desorption ionization time-of-flight mass spectrometry.
Klein A, Lebreton A, Lemoine J, Périni JM, Roussel P, Michalski JC
Clin Chem 1998 Dec;44(12):2422-8. PMID: 9836707
Angiokeratoma corporis diffusum associated with galactosialidosis.
Kawachi Y, Matsu-ura K, Sakuraba H, Otsuka F
Dermatology 1998;197(1):52-4. doi: 10.1159/000017956. PMID: 9693187

Prognosis

Quantitative natural history characterization in a cohort of 142 published cases of patients with galactosialidosis-A cross-sectional study.
Sláma T, Garbade SF, Kölker S, Hoffmann GF, Ries M
J Inherit Metab Dis 2019 Mar;42(2):295-302. Epub 2019 Jan 28 doi: 10.1002/jimd.12010. PMID: 30693535
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
Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes.
Itoh K, Naganawa Y, Matsuzawa F, Aikawa S, Doi H, Sasagasako N, Yamada T, Kira J, Kobayashi T, Pshezhetsky AV, Sakuraba H
J Hum Genet 2002;47(1):29-37. doi: 10.1007/s10038-002-8652-7. PMID: 11829139
Protective protein gene mutations in galactosialidosis.
Shimmoto M, Fukuhara Y, Itoh K, Oshima A, Sakuraba H, Suzuki Y
J Clin Invest 1993 Jun;91(6):2393-8. doi: 10.1172/JCI116472. PMID: 8514852Free PMC Article

Clinical prediction guides

Could GSD type I expand the spectrum of disorders with elevated plasma chitotriosidase activity?
Tümer L, Kasapkara ÇS, Biberoğlu G, Ezgü F, Hasanoğlu A
J Pediatr Endocrinol Metab 2013;26(11-12):1149-52. doi: 10.1515/jpem-2013-0066. PMID: 23813353
Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes.
Itoh K, Naganawa Y, Matsuzawa F, Aikawa S, Doi H, Sasagasako N, Yamada T, Kira J, Kobayashi T, Pshezhetsky AV, Sakuraba H
J Hum Genet 2002;47(1):29-37. doi: 10.1007/s10038-002-8652-7. PMID: 11829139
Conjunctival biopsy in adult form galactosialidosis.
Usui T, Sawaguchi S, Abe H, Iwata K, Oyanagi K
Br J Ophthalmol 1993 Mar;77(3):165-7. doi: 10.1136/bjo.77.3.165. PMID: 8384473Free PMC Article
Galactosialidosis: simultaneous deficiency of esterase, carboxy-terminal deamidase and acid carboxypeptidase activities.
Kase R, Itoh K, Takiyama N, Oshima A, Sakuraba H, Suzuki Y
Biochem Biophys Res Commun 1990 Nov 15;172(3):1175-9. doi: 10.1016/0006-291x(90)91572-a. PMID: 2244901
Combined sialidase (neuraminidase) and beta-galactosidase deficiency. Clinical, morphological and enzymological observations in a patient.
Loonen MC, Reuser AJ, Visser P, Arts WF
Clin Genet 1984 Aug;26(2):139-49. doi: 10.1111/j.1399-0004.1984.tb00804.x. PMID: 6432381

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