Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases.
MAN2B1
alpha-mannosidosis
exome sequencing
hearing impairment
precision medicine
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
09 2019
09 2019
Historique:
received:
15
01
2019
revised:
18
05
2019
accepted:
21
05
2019
pubmed:
27
6
2019
medline:
4
8
2020
entrez:
27
6
2019
Statut:
ppublish
Résumé
Alpha-mannosidosis (AM) is a very rare (prevalence: 1/500000 births) autosomal recessive lysosomal storage disorder. It is characterized by multi-systemic involvement associated with progressive intellectual disability, hearing loss, skeletal anomalies, and coarse facial features. The spectrum is wide, from very severe and lethal to a milder phenotype that usually progresses slowly. AM is caused by a deficiency of lysosomal alpha-mannosidase. A diagnosis can be established by measuring the activity of lysosomal alpha-mannosidase in leucocytes and screening for abnormal urinary excretion of mannose-rich oligosaccharides. Genetic confirmation is obtained with the identification of MAN2B1 mutations. Enzyme replacement therapy (LAMZEDE
Identifiants
pubmed: 31241255
doi: 10.1002/ajmg.a.61273
doi:
Substances chimiques
alpha-Mannosidase
EC 3.2.1.24
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1756-1763Subventions
Organisme : Association S'entendre
Pays : International
Organisme : Fondation Bettencourt-Schueller
Pays : International
Organisme : European Union
ID : 2014/2020
Pays : International
Organisme : Burgundy Regional Council
ID : PARI 2015
Pays : International
Informations de copyright
© 2019 Wiley Periodicals, Inc.