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Deficiency of beta-galactosidase

MedGen UID:
404029
•Concept ID:
C2718068
•
Disease or Syndrome
Synonyms: beta Galactosidase 1 Deficiency; beta Galactosidase Deficiency; beta-Galactosidase Deficiency; Beta-Galactosidase-1 (GLB1) Deficiency; beta-Galactosidase-1 Deficiency; Deficiencies, GLB1; Deficiency, beta Galactosidase; Deficiency, beta-Galactosidase; Deficiency, beta-Galactosidase-1; Deficiency, GLB1; GLB1 Deficiency
SNOMED CT: Deficiency of beta-galactosidase (124465002)

Professional guidelines

PubMed

Treatment of Fabry Nephropathy: A Literature Review.
Shimohata H, Yamashita M, Yamada K, Hirayama K, Kobayashi M
Medicina (Kaunas) 2023 Aug 17;59(8) doi: 10.3390/medicina59081478. PMID: 37629768Free PMC Article
Development of a Biosimilar of Agalsidase Beta for the Treatment of Fabry Disease: Preclinical Evaluation.
van Kuilenburg ABP, Hollak CEM, Travella A, Jacobs M, Gentilini LD, Leen R, der Vlugt KMMG, Stet FSB, Goorden SMI, van der Veen S, Criscuolo M, Papouchado M
Drugs R D 2023 Jun;23(2):141-153. Epub 2023 Apr 21 doi: 10.1007/s40268-023-00421-x. PMID: 37083901Free PMC Article
Fabry Disease: The Current Treatment Landscape.
Lenders M, Brand E
Drugs 2021 Apr;81(6):635-645. Epub 2021 Mar 15 doi: 10.1007/s40265-021-01486-1. PMID: 33721270Free PMC Article

Recent clinical studies

Etiology

Clinical and molecular characteristics of 11 Chinese probands with GM1 gangliosidosis.
Feng Y, Huang Y, Zhao X, Sheng H, Feng Y, Zhang W, Liu L
Metab Brain Dis 2018 Dec;33(6):2051-2057. Epub 2018 Sep 28 doi: 10.1007/s11011-018-0315-2. PMID: 30267299
Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report.
King JE, Dexter A, Gadi I, Zvereff V, Martin M, Bloom M, Vanderver A, Pizzino A, Schmidt JL
J Genet Couns 2014 Oct;23(5):734-41. Epub 2014 Apr 30 doi: 10.1007/s10897-014-9720-9. PMID: 24777551
Gangliosidoses.
Patterson MC
Handb Clin Neurol 2013;113:1707-8. doi: 10.1016/B978-0-444-59565-2.00039-3. PMID: 23622392
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
Gargoylism: hydrolysis of beta-galactosides and tissure accumulation of galactose- and mannose-containing compounds.
Hultberg B, Ockerman PA, Dahlqvist A
J Clin Invest 1970 Feb;49(2):216-24. doi: 10.1172/JCI106230. PMID: 4983660Free PMC Article

Diagnosis

Clinical and molecular characteristics of 11 Chinese probands with GM1 gangliosidosis.
Feng Y, Huang Y, Zhao X, Sheng H, Feng Y, Zhang W, Liu L
Metab Brain Dis 2018 Dec;33(6):2051-2057. Epub 2018 Sep 28 doi: 10.1007/s11011-018-0315-2. PMID: 30267299
Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis.
Lee JS, Choi JM, Lee M, Kim SY, Lee S, Lim BC, Cheon JE, Kim IO, Kim KJ, Choi M, Seong MW, Chae JH
Brain Dev 2018 May;40(5):383-390. Epub 2018 Feb 10 doi: 10.1016/j.braindev.2018.01.009. PMID: 29439846
Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report.
King JE, Dexter A, Gadi I, Zvereff V, Martin M, Bloom M, Vanderver A, Pizzino A, Schmidt JL
J Genet Couns 2014 Oct;23(5):734-41. Epub 2014 Apr 30 doi: 10.1007/s10897-014-9720-9. PMID: 24777551
Gangliosidoses.
Patterson MC
Handb Clin Neurol 2013;113:1707-8. doi: 10.1016/B978-0-444-59565-2.00039-3. PMID: 23622392
Dual diagnosis of dihydropyrimidine dehydrogenase deficiency and GM₁ gangliosidosis.
Ong MT, Chow GC, Morton RE
Pediatr Neurol 2012 Mar;46(3):178-81. doi: 10.1016/j.pediatrneurol.2011.12.005. PMID: 22353294

Therapy

Detection of GM1-gangliosidosis in newborn dried blood spots by enzyme activity and biomarker assays using tandem mass spectrometry.
Su P, Khaledi H, Waggoner C, Gelb MH
J Inherit Metab Dis 2021 Jan;44(1):264-271. Epub 2020 Aug 26 doi: 10.1002/jimd.12269. PMID: 32506457
The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village.
Georgiou T, Stylianidou G, Anastasiadou V, Caciotti A, Campos Y, Zammarchi E, Morrone A, D'azzo A, Drousiotou A
Genet Test 2005 Summer;9(2):126-32. doi: 10.1089/gte.2005.9.126. PMID: 15943552

Prognosis

An autopsy case of G(M1) gangliosidosis type II in a patient who survived a long duration with artificial respiratory support.
Uchino A, Nagai M, Kanazawa N, Ichinoe M, Yanagisawa N, Adachi K, Nanba E, Ishiura H, Mitsui J, Tsuji S, Suzuki K, Murayama S, Nishiyama K
Neuropathology 2020 Aug;40(4):379-388. Epub 2020 Mar 27 doi: 10.1111/neup.12651. PMID: 32219895
Clinical and molecular characteristics of 11 Chinese probands with GM1 gangliosidosis.
Feng Y, Huang Y, Zhao X, Sheng H, Feng Y, Zhang W, Liu L
Metab Brain Dis 2018 Dec;33(6):2051-2057. Epub 2018 Sep 28 doi: 10.1007/s11011-018-0315-2. PMID: 30267299
Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis.
Caciotti A, Donati MA, Boneh A, d'Azzo A, Federico A, Parini R, Antuzzi D, Bardelli T, Nosi D, Kimonis V, Zammarchi E, Morrone A
Hum Mutat 2005 Mar;25(3):285-92. doi: 10.1002/humu.20147. PMID: 15714521
Angiokeratoma corporis diffusum in GM1 gangliosidosis, type 1.
Beratis NG, Varvarigou-Frimas A, Beratis S, Sklower SL
Clin Genet 1989 Jul;36(1):59-64. doi: 10.1111/j.1399-0004.1989.tb03367.x. PMID: 2504516

Clinical prediction guides

An autopsy case of G(M1) gangliosidosis type II in a patient who survived a long duration with artificial respiratory support.
Uchino A, Nagai M, Kanazawa N, Ichinoe M, Yanagisawa N, Adachi K, Nanba E, Ishiura H, Mitsui J, Tsuji S, Suzuki K, Murayama S, Nishiyama K
Neuropathology 2020 Aug;40(4):379-388. Epub 2020 Mar 27 doi: 10.1111/neup.12651. PMID: 32219895
Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis.
Caciotti A, Donati MA, Boneh A, d'Azzo A, Federico A, Parini R, Antuzzi D, Bardelli T, Nosi D, Kimonis V, Zammarchi E, Morrone A
Hum Mutat 2005 Mar;25(3):285-92. doi: 10.1002/humu.20147. PMID: 15714521
Clinical features of adult GM1 gangliosidosis: report of three Indian patients and review of 40 cases.
Muthane U, Chickabasaviah Y, Kaneski C, Shankar SK, Narayanappa G, Christopher R, Govindappa SS
Mov Disord 2004 Nov;19(11):1334-41. doi: 10.1002/mds.20193. PMID: 15389993
Normal serum beta-galactosidase in juvenile GM1 gangliosidosis.
Ishii N, Oshima A, Sakuraba H, Fukuyama Y, Suzuki Y
Pediatr Neurol 1994 Jun;10(4):317-9. doi: 10.1016/0887-8994(94)90129-5. PMID: 8068159
Heterogeneity of Morquio disease.
Beck M, Glössl J, Grubisic A, Spranger J
Clin Genet 1986 Apr;29(4):325-31. doi: 10.1111/j.1399-0004.1986.tb01262.x. PMID: 3087664

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