Child Neurology: Mucopolysaccharidosis IIID: Evidence From Ultrastructural and Genomic Study.
Journal
Neurology
ISSN: 1526-632X
Titre abrégé: Neurology
Pays: United States
ID NLM: 0401060
Informations de publication
Date de publication:
10 10 2023
10 10 2023
Historique:
received:
19
10
2022
accepted:
31
05
2023
pmc-release:
10
10
2024
medline:
23
10
2023
pubmed:
25
7
2023
entrez:
24
7
2023
Statut:
ppublish
Résumé
Mucopolysaccharidosis IIID (MPS IIID/Sanfilippo syndrome D, OMIM # 252940) is an autosomal recessive lysosomal storage disorder (LSD) and the rarest form of the mucopolysaccharidosis (MPS) III subtypes. It is caused by sequence variations in the gene encoding lysosomal enzyme N-acetyl glucosamine-6-sulphatase (GNS). Deficiency of GNS impairs catabolism of glycosaminoglycans causing accumulation of heparan sulphate within lysosomes of various tissues, which is visualized as membranous cytoplasmic bodies (MCBs) on electron microscopy. The recognition of this ultrastructural feature in a muscle biopsy instigated genetic evaluation for LSD in our case resulting in the detection of a novel pathogenic
Identifiants
pubmed: 37487748
pii: WNL.0000000000207647
doi: 10.1212/WNL.0000000000207647
pmc: PMC10585691
doi:
Substances chimiques
Glycosaminoglycans
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
e1572-e1576Informations de copyright
© 2023 American Academy of Neurology.
Références
Diagnostics (Basel). 2021 Feb 10;11(2):
pubmed: 33578874
J Cutan Pathol. 1975;2(4):179-90
pubmed: 172535
Intractable Rare Dis Res. 2020 Feb;9(1):1-9
pubmed: 32201668
Proc Natl Acad Sci U S A. 1980 Nov;77(11):6822-6
pubmed: 6450420
Hum Mutat. 2010 May;31(5):E1348-60
pubmed: 20232353
J Cell Physiol. 2006 Feb;206(2):283-94
pubmed: 15991249
Arch Neurol. 1980 Oct;37(10):645-50
pubmed: 6775621
Genomics. 2003 Jan;81(1):1-5
pubmed: 12573255
Hum Mol Genet. 2017 Apr 15;26(8):1535-1551
pubmed: 28334745
Ital J Pediatr. 2018 Nov 16;44(Suppl 2):133
pubmed: 30442162
J Clin Med. 2019 Sep 14;8(9):
pubmed: 31540112
Radiographics. 2016 Sep-Oct;36(5):1448-62
pubmed: 27618324
J Inherit Metab Dis. 2021 Jan;44(1):129-147
pubmed: 32944950
JIMD Rep. 2014;12:51-63
pubmed: 23852624