Fanconi-Bickel Syndrome

Alternative Names

  • FBS
  • Hepatorenal Glycogenosis with Renal Fanconi Syndrome
  • Hepatic Glycogenosis with Fanconi Nephropathy
  • Hepatic Glycogenosis with Amino Aciduria and Glucosuria
  • Fanconi Syndrome with Intestinal Malabsorption and Galactose Intolerance
  • Pseudo-Phlorizin Diabetes
  • Glycogenosis, Fanconi Type
  • Glycogen Storage Disease XI
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

227810

Mode of Inheritance

Autosomal recessive

Gene Map Locus

3q26.2

Description

Fanconi Bickel disease, also known as glycogen storage disease (GSD) type XI, is a rare inherited disorder which is inherited in an autosomal recessive pattern. The exact prevalence is unknown. Affected patients have rickets, aminoaciduria, phosphaturia, growth failure, hepatomegaly, and fasting hypoglycemia. Diagnosis can be established through clinical manifestations, radiological findings revealing rickets, and from characteristic laboratory findings. Diagnosis can be confirmed by enzyme study or mutation analysis. Affected patients do not respond to glucagon and suffer impaired glucose and galactose metabolism.

Several mutations in the SLC2A2 gene, previously known as GLUT2, has been found to cause GSD XI. SLC2A2 gene is located on the long arm of chromosome 3 and encodes a protein that facilitates bidirectional glucose transport.

Epidemiology in the Arab World

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Other Reports

Saudi Arabia

Taha et al., (2008) studied ten children aged 7.3 +/- 4.8 years who had been diagnosed with Fanconi-Bickel syndrome to evaluate.  All patients with FBS underwent a standard oral glucose tolerance test (OGTT) in order to assess glucose and insulin responses to oral glucose load  Results showed that the patients suffered from hypoinsulinemia,  fasting hypoglycemia and post-OGTT hyperglycemia. The latter two were improved in older patients. In addition, patients had elevated levels of cholesterol and triglycerides.

Moammar et al. (2010) reviewed all patients diagnosed with inborn errors of metabolism (IEM) from 1983 to 2008 at Saudi Aramco medical facilities in the Eastern province of Saudi Arabia. During the study period, 165530 Saudi infants were born, of whom a total of 248 newborns were diagnosed with 55 IEM. Affected patients were evaluated based on clinical manifestations or family history of similar illness and/or unexplained neonatal deaths. Almost all patients were born to consanguineous parents. GSD was found in 17/248 patients. The diagnosis was confirmed in all cases of GSD by measuring the enzyme activity in leukocytes, cultured fibroblasts or liver biopsy. Among GSD cases in this cohort, a single case was found to have GSD type XI.  The estimated incidence of GSD XI in this cohort was 1 in 100,000 live births. The authors concluded that data obtained from this study underestimate the true figures of various IEM in the region. Therefore, there is an urgent need for centralized newborn screening program that utilizes tandem mass spectrometry, and offers genetic counseling for these families.

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