Multiple sulfatase deficiency with neonatal manifestation.

Détails

Ressource 1Télécharger: BIB_AC9BBE40A9FC.P001.pdf (791.26 [Ko])
Etat: Public
Version: de l'auteur
ID Serval
serval:BIB_AC9BBE40A9FC
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
Multiple sulfatase deficiency with neonatal manifestation.
Périodique
Italian journal of pediatrics
Auteur(s)
Garavelli L., Santoro L., Iori A., Gargano G., Braibanti S., Pedori S., Melli N., Frattini D., Zampini L., Galeazzi T., Padella L., Pepe S., Wischmeijer A., Rosato S., Ivanovski I., Iughetti L., Gelmini C., Bernasconi S., Superti-Furga A., Ballabio A., Gabrielli O.
ISSN
1824-7288 (Electronic)
ISSN-L
1720-8424
Statut éditorial
Publié
Date de publication
17/12/2014
Peer-reviewed
Oui
Volume
40
Pages
86
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article
Publication Status: epublish
Résumé
Multiple Sulfatase Deficiency (MSD; OMIM 272200) is a rare autosomal recessive inborn error of metabolism caused by mutations in the sulfatase modifying factor 1 gene, encoding the formylglycine-generating enzyme (FGE), and resulting in tissue accumulation of sulfatides, sulphated glycosaminoglycans, sphingolipids and steroid sulfates. Less than 50 cases have been published so far. We report a new case of MSD presenting in the newborn period with hypotonia, apnoea, cyanosis and rolling eyes, hepato-splenomegaly and deafness. This patient was compound heterozygous for two so far undescribed SUMF1 mutations (c.191C > A; p.S64X and c.818A > G; p.D273G).

Mots-clé
DNA/genetics, DNA Mutational Analysis, Female, Humans, Infant, Newborn, Multiple Sulfatase Deficiency Disease/genetics, Mutation, Sulfatases/genetics
Pubmed
Open Access
Oui
Création de la notice
06/03/2015 19:16
Dernière modification de la notice
20/08/2019 15:16
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