Belgian Genetic Tests database
Fanconi-Bickel syndrome
| Name: |
Fanconi-Bickel syndrome
|
| Description: |
A rare glycogen storage disease due to a deficiency in solute carrier family 2, facilitated glucose transporter member 2 and characterized by hepatorenal glycogen accumulation leading to severe renal tubular dysfunction and impaired glucose and galactose metabolism.
|
| ORPHAcode: |
2088
|
| Synonyms: |
GSD due to GLUT2 deficiency
Glycogen storage disease due to GLUT2 deficiency
Glycogenosis due to GLUT2 deficiency
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| XREF(s): | |
| Analyte(s): | |
| Created: |
13 May 2019 - 01:02
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| Changed: |
22 Jun 2023 - 16:14
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