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Summary
FANCONI-BICKEL SYNDROME
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, generalized
bone fractures
cataract
dwarfism
Fanconi syndrome
feeding difficulties, poor feeding
fever
glucosuria
growth retardation
hepatomegaly (large liver)
hyperglycemia
hypoglycemia
malabsorption
mental retardation
metabolic acidosis
onset, infancy
osteodystrophy, renal
pancreatitis
prominent abdomen
psychomotor retardation
renal failure, acute/chronic
rickets
short stature
tubulopathy
vomiting
laboratory finding
Phosphatase, alkaline 20.00150.00increasedserumchild
Phosphorus, inorganic0.000.00 increasedurineall
Phosphorus, inorganic decreasedserum
Potassium 3.505.50decreasedserumchild
Calcium0.000.00 increasedurineall
Uric acid0.000.00 increasedplasmaall
Galactose0.000.00 normal-increasedurine, plasmaall
Albumin0.000.00 normal/increasedurineno data
Cholesterol increasedplasmaall
Glucose increasedurineall
Triglycerides increasedplasmaall
Galactitol normal-increasedurineall
Glycogen increasedliverall
Literature
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Levy HLet al.Maternal mild hyperphenylalaninemia: an international survey of offspring outcomeLancet34401589-15941994
Zhang AQMitchell S, Smith RFish odour syndrome: verification of carrier detection testJ Inherit Metab Dis180669-6741995
Fraser RDiabetes in pregnancyArch Dis Child710F224-F2301994
Specker BLet al.Urinary methylmalonic acid excretion in infants fed formula or human milkAm J Clin Nutr510209-2111990
Specker BLet al.Vitamin B12: low milk concentrations are related to low serum concentrations in vegetarian women and methylmalonic aciduria in their infantsAm J Clin Nutr5201073-10761990
Barth PGet al.L-2-hydroxyglutaric acidemia: clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenaseJ Inherit Metab Dis160753-7611993
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