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Summary
FANCONI-BICKEL SYNDROME (FBS)
GLYCOGEN STORAGE DISEASE XI HEPATORENAL GLYCOGENOSIS WITH RENAL FANCONI SYNDROME FBS GSD FANCONI-BICKEL TYPE
227810
OMIM = Online Medalian Inheritance of Men
2088
3q26.2
  • cornstarch, uncooked
  • high-caloric nutrition
  • no specific treatment
  • potassium
  • supportive/symptomatic therapy
  • vitamin D
rare
autosomal recessive
mutations in the GLUT2 gene
symptoms
aminoaciduria
bone fractures
cataract
dwarfism
Fanconi syndrome
feeding difficulties, poor feeding
fever
glucosuria
growth retardation, poor growth
hepatomegaly (large liver)
hyperglycemia
hypoglycemia
malabsorption
mental retardation
metabolic acidosis
onset, infancy
onset, neonatal
osteodystrophy
pancreatitis
prominent abdomen
psychomotor retardation
renal failure, acute/chronic
rickets
short stature
tubulopathy
vomiting
laboratory finding
Phosphatase, alkaline 20.00150.00U/lserum
Phosphate0.000.00 mmol/mol creatinineurine
Phosphate mmol/lserum
Potassium 3.505.50mmol/lserum
Calcium0.000.00 mmol/mol creatinineurine
Uric acid0.000.00 +€mol/lplasma
D-Galactose0.000.00 mmol/mol creatinineurineall
Albumin0.000.00 normal/increasedurine
Cholesterol mmol/lplasma
D-Glucose800.001600.00 mmol/mol creatinineurine
Triglycerides mmol/lplasma
Galactitol5.00500.00 mmol/mol creatinineurine
Glycogen increasedliverall
D-Glucose mmol/l (fed)serum
D-Glucose mmol/l (fasted)serum
Literature
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Haack TB,et al.Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.Nat Genet. 2010 Dec42(12):1131-4. Epub 2010 Nov 7.42121131-11342010