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Fanconi-Bickel syndrome(FBS)

MedGen UID:
501176
Concept ID:
C3495427
Disease or Syndrome
Synonyms: Fanconi syndrome with intestinal malabsorption and galactose intolerance; FBS; Glycogen storage disease due to GLUT2 deficiency; Glycogenosis Fanconi type; Hepatic glycogenosis with amino aciduria and glucosuria; HEPATIC GLYCOGENOSIS WITH FANCONI NEPHROPATHY; Hepatorenal glycogenosis with renal Fanconi syndrome; Pseudo-Phlorizin diabetes
SNOMED CT: Fanconi-Bickel syndrome (61598006); Lignac-Fanconi syndrome (62332007)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): SLC2A2 (3q26.2)
 
Monarch Initiative: MONDO:0009216
OMIM®: 227810
Orphanet: ORPHA2088

Definition

Fanconi-Bickel syndrome is a rare but well-defined clinical entity, inherited in an autosomal recessive mode and characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose (Manz et al., 1987). Because no underlying enzymatic defect in carbohydrate metabolism had been identified and because metabolism of both glucose and galactose is impaired, a primary defect of monosaccharide transport across the membranes had been suggested (Berry et al., 1995; Fellers et al., 1967; Manz et al., 1987; Odievre, 1966). Use of the term glycogenosis type XI introduced by Hug (1987) is to be discouraged because glycogen accumulation is not due to the proposed functional defect of phosphoglucomutase, an essential enzyme in the common degradative pathways of both glycogen and galactose, but is secondary to nonfunctional glucose transport. [from OMIM]

Clinical features

From HPO
Glycosuria
MedGen UID:
42267
Concept ID:
C0017979
Finding
An increased concentration of glucose in the urine.
Hypercalciuria
MedGen UID:
43775
Concept ID:
C0020438
Finding
Abnormally high level of calcium in the urine.
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
Increased levels of protein in the urine.
Renal tubular dysfunction
MedGen UID:
57484
Concept ID:
C0151747
Disease or Syndrome
Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid.
Ketonuria
MedGen UID:
56402
Concept ID:
C0162275
Finding
High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state.
Hyperphosphaturia
MedGen UID:
78638
Concept ID:
C0268079
Disease or Syndrome
An increased excretion of phosphates in the urine.
Generalized aminoaciduria
MedGen UID:
339863
Concept ID:
C1847868
Finding
An increased concentration of all types of amino acid in the urine.
Beta 2-microglobulinuria
MedGen UID:
1373797
Concept ID:
C4476798
Finding
Increased level of beta 2-microglobulins in the urine.
Postnatal growth retardation
MedGen UID:
395343
Concept ID:
C1859778
Finding
Slow or limited growth after birth.
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Abdominal distention
MedGen UID:
34
Concept ID:
C0000731
Finding
Distention of the abdomen.
Intrahepatic cholestasis
MedGen UID:
3042
Concept ID:
C0008372
Disease or Syndrome
Impairment of bile flow due to obstruction in the small bile ducts within the liver.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormally increased size of the liver.
Poor appetite
MedGen UID:
68562
Concept ID:
C0232462
Sign or Symptom
A reduced desire to eat.
Malabsorption
MedGen UID:
811453
Concept ID:
C3714745
Finding
Impaired ability to absorb one or more nutrients from the intestine.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Osteomalacia
MedGen UID:
14533
Concept ID:
C0029442
Disease or Syndrome
Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets.
Rickets
MedGen UID:
48470
Concept ID:
C0035579
Disease or Syndrome
Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets.
Reduced subcutaneous adipose tissue
MedGen UID:
387876
Concept ID:
C1857657
Finding
A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness.
Acidosis
MedGen UID:
1296
Concept ID:
C0001122
Pathologic Function
Abnormal acid accumulation or depletion of base.
Hypokalemia
MedGen UID:
5712
Concept ID:
C0020621
Finding
An abnormally decreased potassium concentration in the blood.
Hypophosphatemia
MedGen UID:
39327
Concept ID:
C0085682
Disease or Syndrome
An abnormally decreased phosphate concentration in the blood.
Elevated circulating aspartate aminotransferase concentration
MedGen UID:
57497
Concept ID:
C0151904
Finding
The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal.
Elevated circulating alanine aminotransferase concentration
MedGen UID:
57740
Concept ID:
C0151905
Finding
An abnormally high concentration in the circulation of alanine aminotransferase (ALT).
Hypouricemia
MedGen UID:
113163
Concept ID:
C0221333
Finding
An abnormally low level of uric acid in the blood.
Fasting hypoglycemia
MedGen UID:
75765
Concept ID:
C0271708
Disease or Syndrome
HYPOGLYCEMIA expressed in the postabsorptive state, after prolonged FASTING, or an overnight fast.
Hyperbilirubinemia
MedGen UID:
86321
Concept ID:
C0311468
Finding
An increased amount of bilirubin in the blood.
Elevated circulating alkaline phosphatase concentration
MedGen UID:
727252
Concept ID:
C1314665
Finding
Abnormally increased serum levels of alkaline phosphatase activity.
Chronic acidosis
MedGen UID:
760150
Concept ID:
C1735903
Pathologic Function
Longstanding abnormal acid accumulation or depletion of base.
Postprandial hyperglycemia
MedGen UID:
383702
Concept ID:
C1855520
Finding
An increased concentration of glucose in the blood following a meal.
Impairment of galactose metabolism
MedGen UID:
867282
Concept ID:
C4021643
Finding
An impairment of galactose metabolism.
Increased serum bile acid concentration
MedGen UID:
868605
Concept ID:
C4023004
Finding
An increase in the concentration of bile acid in the blood.
Hypergalactosemia
MedGen UID:
892325
Concept ID:
C4023071
Finding
Elevated concentration of galactose in the blood.
Elevated gamma-glutamyltransferase level
MedGen UID:
1370086
Concept ID:
C4476869
Finding
Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFanconi-Bickel syndrome

Professional guidelines

PubMed

Du T, Xia Y, Sun C, Gong Z, Liang L, Gong Z, Wang R, Lu D, Zhang K, Yang Y, Sun Y, Sun M, Sun Y, Xiao B, Qiu W
Orphanet J Rare Dis 2024 Feb 16;19(1):75. doi: 10.1186/s13023-024-03070-8. PMID: 38365697Free PMC Article

Recent clinical studies

Etiology

Demczko MM, Liu TT, Napoli JA
J Pediatr Endocrinol Metab 2022 Sep 27;35(9):1201-1205. Epub 2022 Jul 7 doi: 10.1515/jpem-2022-0150. PMID: 35796289
Pennisi A, Maranda B, Benoist JF, Baudouin V, Rigal O, Pichard S, Santer R, Romana Lepri F, Novelli A, Ogier de Baulny H, Dionisi-Vici C, Schiff M
J Inherit Metab Dis 2020 May;43(3):540-548. Epub 2020 Jan 1 doi: 10.1002/jimd.12203. PMID: 31816104
Şeker-Yılmaz B, Kör D, Bulut FD, Yüksel B, Karabay-Bayazıt A, Topaloğlu AK, Ceylaner G, Önenli-Mungan N
Turk J Pediatr 2017;59(4):434-441. doi: 10.24953/turkjped.2017.04.010. PMID: 29624224
Thorens B
Diabetologia 2015 Feb;58(2):221-32. Epub 2014 Nov 25 doi: 10.1007/s00125-014-3451-1. PMID: 25421524
Santer R, Schneppenheim R, Suter D, Schaub J, Steinmann B
Eur J Pediatr 1998 Oct;157(10):783-97. doi: 10.1007/s004310050937. PMID: 9809815

Diagnosis

Govindarajan S, Khandelwal P, Sharma S, Agarwala A, Sinha A, Hari P, Bagga A
Indian J Pediatr 2023 Feb;90(2):178-180. Epub 2022 Nov 3 doi: 10.1007/s12098-022-04372-0. PMID: 36324017
Pogoriler J, O'Neill AF, Voss SD, Shamberger RC, Perez-Atayde AR
Pediatr Dev Pathol 2018 Jan-Feb;21(1):84-90. Epub 2017 Apr 6 doi: 10.1177/1093526617693540. PMID: 28382841
Thorens B
Diabetologia 2015 Feb;58(2):221-32. Epub 2014 Nov 25 doi: 10.1007/s00125-014-3451-1. PMID: 25421524
Mohandas Nair K, Sakamoto O, Jagadeesh S, Nampoothiri S
Indian J Pediatr 2012 Jan;79(1):112-4. Epub 2011 Feb 15 doi: 10.1007/s12098-011-0373-5. PMID: 21327337
Karande S, Kumbhare N, Kulkarni M
Indian Pediatr 2007 Mar;44(3):223-5. PMID: 17413201

Therapy

Trepiccione F, Iervolino A, D'Acierno M, Siccardi S, Costanzo V, Sardella D, De La Motte LR, D'Apolito L, Miele A, Perna AF, Capolongo G, Zacchia M, Frische S, Nielsen R, Staiano L, Sambri I, De Cegli R, Unwin R, Eladari D, Capasso G
Sci Transl Med 2023 Nov;15(720):eabn4214. Epub 2023 Nov 1 doi: 10.1126/scitranslmed.abn4214. PMID: 37910600
Demczko MM, Liu TT, Napoli JA
J Pediatr Endocrinol Metab 2022 Sep 27;35(9):1201-1205. Epub 2022 Jul 7 doi: 10.1515/jpem-2022-0150. PMID: 35796289
Setoodeh A, Rabbani A
Acta Med Iran 2012;50(12):836-8. PMID: 23456528
Grünert SC, Schwab KO, Pohl M, Sass JO, Santer R
Mol Genet Metab 2012 Mar;105(3):433-7. Epub 2011 Dec 8 doi: 10.1016/j.ymgme.2011.11.200. PMID: 22214819
Gopalakrishnan A, Kumar M, Krishnamurthy S, Sakamoto O, Srinivasan S
Clin Exp Nephrol 2011 Oct;15(5):745-748. Epub 2011 May 31 doi: 10.1007/s10157-011-0456-7. PMID: 21625891

Prognosis

Batool H, Zubaida B, Hashmi MA, Naeem M
J Pediatr Endocrinol Metab 2019 Nov 26;32(11):1229-1233. doi: 10.1515/jpem-2019-0235. PMID: 31473689
Grünert SC, Schwab KO, Pohl M, Sass JO, Santer R
Mol Genet Metab 2012 Mar;105(3):433-7. Epub 2011 Dec 8 doi: 10.1016/j.ymgme.2011.11.200. PMID: 22214819
Santer R, Calado J
Clin J Am Soc Nephrol 2010 Jan;5(1):133-41. Epub 2009 Nov 5 doi: 10.2215/CJN.04010609. PMID: 19965550
Elpeleg ON
J Pediatr Endocrinol Metab 1999 May-Jun;12(3):363-79. doi: 10.1515/jpem.1999.12.3.363. PMID: 10821216
Santer R, Schneppenheim R, Suter D, Schaub J, Steinmann B
Eur J Pediatr 1998 Oct;157(10):783-97. doi: 10.1007/s004310050937. PMID: 9809815

Clinical prediction guides

Du T, Xia Y, Sun C, Gong Z, Liang L, Gong Z, Wang R, Lu D, Zhang K, Yang Y, Sun Y, Sun M, Sun Y, Xiao B, Qiu W
Orphanet J Rare Dis 2024 Feb 16;19(1):75. doi: 10.1186/s13023-024-03070-8. PMID: 38365697Free PMC Article
Enogieru OJ, Ung PMU, Yee SW, Schlessinger A, Giacomini KM
Hum Mutat 2019 Jul;40(7):983-995. Epub 2019 Apr 25 doi: 10.1002/humu.23758. PMID: 30950137Free PMC Article
Grünert SC, Schwab KO, Pohl M, Sass JO, Santer R
Mol Genet Metab 2012 Mar;105(3):433-7. Epub 2011 Dec 8 doi: 10.1016/j.ymgme.2011.11.200. PMID: 22214819
Santer R, Calado J
Clin J Am Soc Nephrol 2010 Jan;5(1):133-41. Epub 2009 Nov 5 doi: 10.2215/CJN.04010609. PMID: 19965550
Santer R, Schneppenheim R, Suter D, Schaub J, Steinmann B
Eur J Pediatr 1998 Oct;157(10):783-97. doi: 10.1007/s004310050937. PMID: 9809815

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