| FANCONI-BICKEL SYNDROME (FBS) | |
| GLYCOGEN STORAGE DISEASE XI; HEPATORENAL GLYCOGENOSIS WITH RENAL FANCONI SYNDROME; FBS; GSD FANCONI-BICKEL TYPE | |
|
227810
OMIM = Online Mendelian Inheritance of Men | |
|
2088 | |
| Solute carrier family 2, facilitated glucose transporter member 2 | |
| rare autosomal recessive mutations in the GLUT2 gene | |
| Laboratory findings | D-Glucose inc (urine) Albumin normal/inc (urine) Calcium inc (urine) Cholesterol inc (plasma) D-Galactose inc (urine) D-Glucose normal/inc (serum) D-Glucose normal/dec (serum) Galactitol normal/inc (urine) Glycogen inc (liver) Phosphatase, alkaline inc (serum) Phosphate dec (serum) Phosphate inc (urine) Potassium dec (serum) Transaminases (ASAT/ALAT) normal/inc (serum) Triglycerides inc (plasma) Uric acid inc (plasma) |
| Symptoms | glucosuria renal failure, acute/chronic short stature Amino acids, urine aminoaciduria cataract failure to thrive hepatomegaly (large liver) loose stools malabsorption renal enlargement rickets tubulopathy bone fractures developmental delay dwarfism Fanconi syndrome feeding difficulties, poor feeding fever growth retardation, poor growth hyperglycemia hypoglycemia mental retardation metabolic acidosis onset, infancy onset, neonatal osteodystrophy pancreatitis prominent abdomen psychomotor retardation vomiting |