Abstract
We Present the first mutation proven case of Fanconi-Bickel syndrome, a rare type of glycogen storage disease, from India. A four-year-old girl presented with severe growth retardation, genu varum and hepatomegaly. Investigations confirmed severe hypophosphatemic rickets and Fanconi syndrome. Molecular analysis confirmed a homozygous deletion insertion mutation in Glut 2 gene.
Original language | English |
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Pages (from-to) | 112-114 |
Number of pages | 3 |
Journal | Indian Journal of Pediatrics |
Volume | 79 |
Issue number | 1 |
DOIs | |
Publication status | Published - 2012 Jan 1 |
Keywords
- Fanconi syndrome
- Fanconi-Bickel syndrome
- Glycogen storage disease type XI
- Rickets
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health