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Abnormality of mucopolysaccharide metabolism

MedGen UID:
869170
Concept ID:
C4023592
Finding
HPO: HP:0011020

Definition

An abnormality of the metabolism of mucopolysaccharide. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Abnormality of mucopolysaccharide metabolism

Conditions with this feature

Mucolipidosis type IV
MedGen UID:
68663
Concept ID:
C0238286
Disease or Syndrome
Mucolipidosis IV (MLIV) is an ultra-rare lysosomal storage disorder characterized by severe psychomotor delay, progressive visual impairment, and achlorhydria. Individuals with MLIV typically present by the end of the first year of life with delayed developmental milestones (due to a developmental brain abnormality) and impaired vision (resulting from a combination of corneal clouding and retinal degeneration). By adolescence, all individuals with MLIV have severe visual impairment. A neurodegenerative component of MLIV has become more widely appreciated, with the majority of individuals demonstrating progressive spastic quadriparesis and loss of psychomotor skills starting in the second decade of life. About 5% of individuals have atypical MLIV, manifesting with less severe psychomotor impairment, but still exhibiting progressive retinal degeneration and achlorhydria.

Professional guidelines

PubMed

O'Leary JG, Greenberg CS, Patton HM, Caldwell SH
Gastroenterology 2019 Jul;157(1):34-43.e1. Epub 2019 Apr 12 doi: 10.1053/j.gastro.2019.03.070. PMID: 30986390
Donati MA, Pasquini E, Spada M, Polo G, Burlina A
Ital J Pediatr 2018 Nov 16;44(Suppl 2):126. doi: 10.1186/s13052-018-0552-3. PMID: 30442156Free PMC Article
Rapoport DM, Mitchell JJ
Mol Genet Metab 2017 Dec;122S:49-54. Epub 2017 Aug 25 doi: 10.1016/j.ymgme.2017.08.008. PMID: 28964643

Recent clinical studies

Etiology

Kozumi K, Kodama T, Murai H, Sakane S, Govaere O, Cockell S, Motooka D, Kakita N, Yamada Y, Kondo Y, Tahata Y, Yamada R, Hikita H, Sakamori R, Kamada Y, Daly AK, Anstee QM, Tatsumi T, Morii E, Takehara T
Hepatology 2021 Nov;74(5):2452-2466. Epub 2021 Aug 21 doi: 10.1002/hep.31995. PMID: 34105780Free PMC Article
Phan THG, Paliogiannis P, Nasrallah GK, Giordo R, Eid AH, Fois AG, Zinellu A, Mangoni AA, Pintus G
Cell Mol Life Sci 2021 Mar;78(5):2031-2057. Epub 2020 Nov 17 doi: 10.1007/s00018-020-03693-7. PMID: 33201251Free PMC Article
Sniderman AD, Thanassoulis G, Glavinovic T, Navar AM, Pencina M, Catapano A, Ference BA
JAMA Cardiol 2019 Dec 1;4(12):1287-1295. doi: 10.1001/jamacardio.2019.3780. PMID: 31642874Free PMC Article
O'Leary JG, Greenberg CS, Patton HM, Caldwell SH
Gastroenterology 2019 Jul;157(1):34-43.e1. Epub 2019 Apr 12 doi: 10.1053/j.gastro.2019.03.070. PMID: 30986390
Barrera LM, Perel P, Ker K, Cirocchi R, Farinella E, Morales Uribe CH
Cochrane Database Syst Rev 2013 Mar 28;(3):CD008303. doi: 10.1002/14651858.CD008303.pub2. PMID: 23543562

Diagnosis

Kozumi K, Kodama T, Murai H, Sakane S, Govaere O, Cockell S, Motooka D, Kakita N, Yamada Y, Kondo Y, Tahata Y, Yamada R, Hikita H, Sakamori R, Kamada Y, Daly AK, Anstee QM, Tatsumi T, Morii E, Takehara T
Hepatology 2021 Nov;74(5):2452-2466. Epub 2021 Aug 21 doi: 10.1002/hep.31995. PMID: 34105780Free PMC Article
Payne RM, Burns KM, Glatz AC, Li D, Li X, Monagle P, Newburger JW, Swan EA, Wheaton O, Male C; Pediatric Heart Network Investigators
Am Heart J 2019 Nov;217:52-63. Epub 2019 Aug 9 doi: 10.1016/j.ahj.2019.08.002. PMID: 31493728Free PMC Article
Donati MA, Pasquini E, Spada M, Polo G, Burlina A
Ital J Pediatr 2018 Nov 16;44(Suppl 2):126. doi: 10.1186/s13052-018-0552-3. PMID: 30442156Free PMC Article
Khan S, Alméciga-Díaz CJ, Sawamoto K, Mackenzie WG, Theroux MC, Pizarro C, Mason RW, Orii T, Tomatsu S
Mol Genet Metab 2017 Jan-Feb;120(1-2):78-95. Epub 2016 Nov 29 doi: 10.1016/j.ymgme.2016.11.007. PMID: 27979613Free PMC Article
Badame AJ
Arch Dermatol 1989 Apr;125(4):540-4. PMID: 2649013

Therapy

Phan THG, Paliogiannis P, Nasrallah GK, Giordo R, Eid AH, Fois AG, Zinellu A, Mangoni AA, Pintus G
Cell Mol Life Sci 2021 Mar;78(5):2031-2057. Epub 2020 Nov 17 doi: 10.1007/s00018-020-03693-7. PMID: 33201251Free PMC Article
Sniderman AD, Thanassoulis G, Glavinovic T, Navar AM, Pencina M, Catapano A, Ference BA
JAMA Cardiol 2019 Dec 1;4(12):1287-1295. doi: 10.1001/jamacardio.2019.3780. PMID: 31642874Free PMC Article
O'Leary JG, Greenberg CS, Patton HM, Caldwell SH
Gastroenterology 2019 Jul;157(1):34-43.e1. Epub 2019 Apr 12 doi: 10.1053/j.gastro.2019.03.070. PMID: 30986390
Chang CL, Wang DH, Yang MC, Hsu WE, Hsu ML
Kaohsiung J Med Sci 2018 Apr;34(4):223-230. Epub 2018 Feb 7 doi: 10.1016/j.kjms.2018.01.004. PMID: 29655411
Barrera LM, Perel P, Ker K, Cirocchi R, Farinella E, Morales Uribe CH
Cochrane Database Syst Rev 2013 Mar 28;(3):CD008303. doi: 10.1002/14651858.CD008303.pub2. PMID: 23543562

Prognosis

Kozumi K, Kodama T, Murai H, Sakane S, Govaere O, Cockell S, Motooka D, Kakita N, Yamada Y, Kondo Y, Tahata Y, Yamada R, Hikita H, Sakamori R, Kamada Y, Daly AK, Anstee QM, Tatsumi T, Morii E, Takehara T
Hepatology 2021 Nov;74(5):2452-2466. Epub 2021 Aug 21 doi: 10.1002/hep.31995. PMID: 34105780Free PMC Article
Warkentin TE, Kaatz S
Thromb Res 2020 Dec;196:38-51. Epub 2020 Aug 10 doi: 10.1016/j.thromres.2020.08.017. PMID: 32841919Free PMC Article
Donati MA, Pasquini E, Spada M, Polo G, Burlina A
Ital J Pediatr 2018 Nov 16;44(Suppl 2):126. doi: 10.1186/s13052-018-0552-3. PMID: 30442156Free PMC Article
Melbouci M, Mason RW, Suzuki Y, Fukao T, Orii T, Tomatsu S
Mol Genet Metab 2018 May;124(1):1-10. Epub 2018 Mar 16 doi: 10.1016/j.ymgme.2018.03.004. PMID: 29627275Free PMC Article
Badame AJ
Arch Dermatol 1989 Apr;125(4):540-4. PMID: 2649013

Clinical prediction guides

Kozumi K, Kodama T, Murai H, Sakane S, Govaere O, Cockell S, Motooka D, Kakita N, Yamada Y, Kondo Y, Tahata Y, Yamada R, Hikita H, Sakamori R, Kamada Y, Daly AK, Anstee QM, Tatsumi T, Morii E, Takehara T
Hepatology 2021 Nov;74(5):2452-2466. Epub 2021 Aug 21 doi: 10.1002/hep.31995. PMID: 34105780Free PMC Article
Warkentin TE, Kaatz S
Thromb Res 2020 Dec;196:38-51. Epub 2020 Aug 10 doi: 10.1016/j.thromres.2020.08.017. PMID: 32841919Free PMC Article
Sniderman AD, Thanassoulis G, Glavinovic T, Navar AM, Pencina M, Catapano A, Ference BA
JAMA Cardiol 2019 Dec 1;4(12):1287-1295. doi: 10.1001/jamacardio.2019.3780. PMID: 31642874Free PMC Article
O'Leary JG, Greenberg CS, Patton HM, Caldwell SH
Gastroenterology 2019 Jul;157(1):34-43.e1. Epub 2019 Apr 12 doi: 10.1053/j.gastro.2019.03.070. PMID: 30986390
Barrera LM, Perel P, Ker K, Cirocchi R, Farinella E, Morales Uribe CH
Cochrane Database Syst Rev 2013 Mar 28;(3):CD008303. doi: 10.1002/14651858.CD008303.pub2. PMID: 23543562

Recent systematic reviews

Shlobin NA, LoPresti MA, Beestrum M, Lam S
Childs Nerv Syst 2020 Nov;36(11):2621-2633. Epub 2020 Aug 2 doi: 10.1007/s00381-020-04829-7. PMID: 32743709
Schlotawa L, Preiskorn J, Ahrens-Nicklas R, Schiller S, Adang LA, Gärtner J, Friede T
J Inherit Metab Dis 2020 Nov;43(6):1288-1297. Epub 2020 Jul 22 doi: 10.1002/jimd.12282. PMID: 32621519
McDowell S, Kroon B, Ford E, Hook Y, Glujovsky D, Yazdani A
Cochrane Database Syst Rev 2014 Oct 28;(10):CD010461. doi: 10.1002/14651858.CD010461.pub2. PMID: 25348679
Barrera LM, Perel P, Ker K, Cirocchi R, Farinella E, Morales Uribe CH
Cochrane Database Syst Rev 2013 Mar 28;(3):CD008303. doi: 10.1002/14651858.CD008303.pub2. PMID: 23543562

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