Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype.

Sarah Catharina Grünert; Karl Otfried Schwab; Martin Pohl; Jörn Oliver Sass; René Santer

doi:10.1016/j.ymgme.2011.11.200

Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype.

Standard

Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype. / Grünert, Sarah Catharina; Schwab, Karl Otfried; Pohl, Martin; Sass, Jörn Oliver; Santer, René.

In: MOL GENET METAB, Vol. 105, No. 3, 3, 01.03.2012, p. 433-437.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Grünert, SC, Schwab, KO, Pohl, M, Sass, JO & Santer, R 2012, 'Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype.', MOL GENET METAB, vol. 105, no. 3, 3, pp. 433-437. https://doi.org/10.1016/j.ymgme.2011.11.200

APA

Grünert, S. C., Schwab, K. O., Pohl, M., Sass, J. O., & Santer, R. (2012). Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype. MOL GENET METAB, 105(3), 433-437. [3]. https://doi.org/10.1016/j.ymgme.2011.11.200

Vancouver

Grünert SC, Schwab KO, Pohl M, Sass JO, Santer R. Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype. MOL GENET METAB. 2012 Mar 1;105(3):433-437. 3. https://doi.org/10.1016/j.ymgme.2011.11.200

Bibtex

@article{a2239dd959a94d8c9780d1dfc3142543,

title = "Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype.",

abstract = "Fanconi-Bickel syndrome (FBS, OMIM #227810), a congenital disorder of carbohydrate metabolism, is caused by mutations in GLUT2 (SLC2A2), the gene encoding the glucose transporter protein-2. The typical clinical picture is characterized by hepatorenal glycogen accumulation resulting in hepato- and nephromegaly, impaired utilization of glucose and galactose, proximal tubular nephropathy, rickets, and severe short stature. We report on two siblings with FBS and an unusually mild clinical course. A 9.5-year-old boy with failure to thrive was diagnosed at the age of 9 months, his younger sister (4.5 years) was investigated in the first months of life and also diagnosed with FBS. Both patients were found to be compound heterozygous for the novel GLUT2 (SLC2A2) mutations c.457_462delCTTATA (p.153_4delLI) and c.1250C>G (p.P417R). On a diet restricted in free glucose and galactose, both children showed normal growth. Hepatomegaly, nephromegaly and hypophosphatemic rickets have never been observed. Glucosuria and tubular proteinuria were only mild compared to previously reported patients with FBS. This report describes an unusually mild phenotype of FBS expanding the spectrum of this disease. Some clinical signs that have been considered hallmarks of FBS like hepatomegaly and short stature may be absent in this condition. As a consequence, clinicians will have to look for GLUT2 mutations even in patients with isolated glucosuria.",

keywords = "Humans, Male, Female, Child, Child, Preschool, Mutation, Phenotype, Glucose Transporter Type 2/*genetics, Glucose/administration & dosage, Dietary Carbohydrates/administration & dosage, Failure to Thrive/genetics, Fanconi Syndrome/*diet therapy/*genetics, Galactose/administration & dosage, Glycosuria, Humans, Male, Female, Child, Child, Preschool, Mutation, Phenotype, Glucose Transporter Type 2/*genetics, Glucose/administration & dosage, Dietary Carbohydrates/administration & dosage, Failure to Thrive/genetics, Fanconi Syndrome/*diet therapy/*genetics, Galactose/administration & dosage, Glycosuria",

author = "Gr{\"u}nert, {Sarah Catharina} and Schwab, {Karl Otfried} and Martin Pohl and Sass, {J{\"o}rn Oliver} and Ren{\'e} Santer",

year = "2012",

month = mar,

day = "1",

doi = "10.1016/j.ymgme.2011.11.200",

language = "English",

volume = "105",

pages = "433--437",

journal = "MOL GENET METAB",

issn = "1096-7192",

publisher = "Academic Press Inc.",

number = "3",

}

RIS

TY - JOUR

T1 - Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype.

AU - Grünert, Sarah Catharina

AU - Schwab, Karl Otfried

AU - Pohl, Martin

AU - Sass, Jörn Oliver

AU - Santer, René

PY - 2012/3/1

Y1 - 2012/3/1

N2 - Fanconi-Bickel syndrome (FBS, OMIM #227810), a congenital disorder of carbohydrate metabolism, is caused by mutations in GLUT2 (SLC2A2), the gene encoding the glucose transporter protein-2. The typical clinical picture is characterized by hepatorenal glycogen accumulation resulting in hepato- and nephromegaly, impaired utilization of glucose and galactose, proximal tubular nephropathy, rickets, and severe short stature. We report on two siblings with FBS and an unusually mild clinical course. A 9.5-year-old boy with failure to thrive was diagnosed at the age of 9 months, his younger sister (4.5 years) was investigated in the first months of life and also diagnosed with FBS. Both patients were found to be compound heterozygous for the novel GLUT2 (SLC2A2) mutations c.457_462delCTTATA (p.153_4delLI) and c.1250C>G (p.P417R). On a diet restricted in free glucose and galactose, both children showed normal growth. Hepatomegaly, nephromegaly and hypophosphatemic rickets have never been observed. Glucosuria and tubular proteinuria were only mild compared to previously reported patients with FBS. This report describes an unusually mild phenotype of FBS expanding the spectrum of this disease. Some clinical signs that have been considered hallmarks of FBS like hepatomegaly and short stature may be absent in this condition. As a consequence, clinicians will have to look for GLUT2 mutations even in patients with isolated glucosuria.

AB - Fanconi-Bickel syndrome (FBS, OMIM #227810), a congenital disorder of carbohydrate metabolism, is caused by mutations in GLUT2 (SLC2A2), the gene encoding the glucose transporter protein-2. The typical clinical picture is characterized by hepatorenal glycogen accumulation resulting in hepato- and nephromegaly, impaired utilization of glucose and galactose, proximal tubular nephropathy, rickets, and severe short stature. We report on two siblings with FBS and an unusually mild clinical course. A 9.5-year-old boy with failure to thrive was diagnosed at the age of 9 months, his younger sister (4.5 years) was investigated in the first months of life and also diagnosed with FBS. Both patients were found to be compound heterozygous for the novel GLUT2 (SLC2A2) mutations c.457_462delCTTATA (p.153_4delLI) and c.1250C>G (p.P417R). On a diet restricted in free glucose and galactose, both children showed normal growth. Hepatomegaly, nephromegaly and hypophosphatemic rickets have never been observed. Glucosuria and tubular proteinuria were only mild compared to previously reported patients with FBS. This report describes an unusually mild phenotype of FBS expanding the spectrum of this disease. Some clinical signs that have been considered hallmarks of FBS like hepatomegaly and short stature may be absent in this condition. As a consequence, clinicians will have to look for GLUT2 mutations even in patients with isolated glucosuria.

KW - Humans

KW - Male

KW - Female

KW - Child

KW - Child, Preschool

KW - Mutation

KW - Phenotype

KW - Glucose Transporter Type 2/genetics

KW - Glucose/administration & dosage

KW - Dietary Carbohydrates/administration & dosage

KW - Failure to Thrive/genetics

KW - Fanconi Syndrome/diet therapy/genetics

KW - Galactose/administration & dosage

KW - Glycosuria

KW - Humans

KW - Male

KW - Female

KW - Child

KW - Child, Preschool

KW - Mutation

KW - Phenotype

KW - Glucose Transporter Type 2/genetics

KW - Glucose/administration & dosage

KW - Dietary Carbohydrates/administration & dosage

KW - Failure to Thrive/genetics

KW - Fanconi Syndrome/diet therapy/genetics

KW - Galactose/administration & dosage

KW - Glycosuria

U2 - 10.1016/j.ymgme.2011.11.200

DO - 10.1016/j.ymgme.2011.11.200

M3 - SCORING: Journal article

C2 - 22214819

VL - 105

SP - 433

EP - 437

JO - MOL GENET METAB

JF - MOL GENET METAB

SN - 1096-7192

IS - 3

M1 - 3

ER -