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Neu1 Deficiency

MedGen UID:
120622
•Concept ID:
C0268228
•
Disease or Syndrome
Synonyms: Neuraminidase 1 deficiency; Sialidosis, Type I
 
OMIM®: 256550; 608272

Professional guidelines

PubMed

Prenatal diagnosis and fetal pathology in a Turkish family harboring a novel nonsense mutation in the lysosomal alpha-N-acetyl-neuraminidase (sialidase) gene.
Sergi C, Penzel R, Uhl J, Zoubaa S, Dietrich H, Decker N, Rieger P, Kopitz J, Otto HF, Kiessling M, Cantz M
Hum Genet 2001 Oct;109(4):421-8. doi: 10.1007/s004390100592. PMID: 11702224

Recent clinical studies

Therapy

Intermittent enzyme replacement therapy with recombinant human β-galactosidase prevents neuraminidase 1 deficiency.
Luu AR, Wong C, Agrawal V, Wise N, Handyside B, Lo MJ, Pacheco G, Felix JB, Giaramita A, d'Azzo A, Vincelette J, Bullens S, Bunting S, Christianson TM, Hague CM, LeBowitz JH, Yogalingam G
J Biol Chem 2020 Sep 25;295(39):13556-13569. Epub 2020 Jul 28 doi: 10.1074/jbc.RA119.010794. PMID: 32727849Free PMC Article
Neuraminidase-1 is required for the normal assembly of elastic fibers.
Starcher B, d'Azzo A, Keller PW, Rao GK, Nadarajah D, Hinek A
Am J Physiol Lung Cell Mol Physiol 2008 Oct;295(4):L637-47. Epub 2008 Aug 8 doi: 10.1152/ajplung.90346.2008. PMID: 18689602Free PMC Article

Clinical prediction guides

Thymoquinone from nutraceutical black cumin oil activates Neu4 sialidase in live macrophage, dendritic, and normal and type I sialidosis human fibroblast cells via GPCR Galphai proteins and matrix metalloproteinase-9.
Finlay TM, Jayanth P, Amith SR, Gilmour A, Guzzo C, Gee K, Beyaert R, Szewczuk MR
Glycoconj J 2010 Apr;27(3):329-48. Epub 2010 Mar 6 doi: 10.1007/s10719-010-9281-6. PMID: 20213245

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