Early Diagnosis of Fanconi-Bickel Syndrome and a Novel Mutation inSLC2A2 Gene

Early Diagnosis of Fanconi-Bickel Syndrome and a Novel Mutation inSLC2A2 Gene

Fanconi-Bickel syndrome is a metabolic disease caused by mutations in SCL2A2 gene. Hepatic and renal glycogen storage, fasting hypoglycemia, and renal tubular dysfunction are characteristics of the disease that is usually diagnosed at 6-10 months of age. Here, we present a case of Fanconi-Bickel syn...

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Bibliographic Details
Main Authors: Ezgi Çelikboya, Mehmet Şerif Cansever, Tanyel Zübarioğlu, Gözde Yeşil, Nurver Akıncı
Format: Article
Language:English
Published: Galenos Yayinevi 2019-09-01
Series:Haseki Tıp Bülteni
Subjects:
Fanconi-Bickel syndrome
SCL2A2 gene
hyperglycemia
glycosuria
Online Access: http://www.hasekidergisi.com/archives/archive-detail/article-preview/early-diagnosis-of-fanconi-bickel-syndrome-and-a-n/30329

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http://www.hasekidergisi.com/archives/archive-detail/article-preview/early-diagnosis-of-fanconi-bickel-syndrome-and-a-n/30329

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