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Summary
FANCONI-BICKEL SYNDROME
HEPATORENAL GLYCOGENOSIS WITH RENAL FANCONI SYNDROME GLYCOGEN STORAGE DISEASE XI FBS GSD Fanconi-Bickel type
227810
OMIM = Online Medalian Inheritance of Men
2088
3q26.1-q26.3
  • cornstarch, uncooked
  • high-caloric nutrition
  • no specific treatment
  • potassium
  • supportive/symptomatic therapy
  • vitamin D
rare autosomal recessive
symptoms
aminoaciduria, generalized
bone fractures
dwarfism
Fanconi syndrome
feeding difficulties, poor feeding
fever
glucosuria
growth retardation
hepatomegaly (large liver)
hyperglycemia
hypoglycemia
mental retardation
metabolic acidosis
onset, infant
osteodystrophy, renal
pancreatitis
prominent abdomen
rickets
vomiting
laboratory finding
Phosphatase, alkaline 20.00150.00increasedserum
Phosphorus, inorganic0.000.00 increasedurineno data
Phosphorus, inorganic decreasedserum
Potassium 3.505.50decreasedserum
Calcium0.000.00 increasedurineno data
Uric acid0.000.00 increasedurineno data
Galactose0.000.00 increasedurineno data
Albumin0.000.00 normal/increasedurineno data
Literature
K+€hne TBubl R, Baumgartner RMaternal veganian diet causing serious infantile neurological disorder due to vitamin B12 deficiencyEur J Pediatr1500205-2081991
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