Mutations were also found in patients with atypical clinical signs such as intestinal malabsorption, failure to thrive, the absence of hepatomegaly, or renal hyperfiltration. [ncbi.nlm.nih.gov]

[…] consanguineous marriage was brought to us with complains of failure to thrive, abdominal distention, polyuria and polydypsia since 6 month of age. [journalofpediatriccriticalcare.com]

Clinical description Onset occurs during the first few months of life with failure to thrive, polyuria and rickets related to proximal tubular losses. [orpha.net]

2 (GLUT2 or SLC2A2) gene which codes for the glucose transporter protein 2 expressed in hepatocytes and renal tubular cells causing a defect in carbohydrate metabolism, hepatomegaly, severe hypophosphatemic rickets and failure to thrive. [scinapse.io]

Mutations were also found in patients with atypical clinical signs such as intestinal malabsorption, failure to thrive, the absence of hepatomegaly, or renal hyperfiltration. [ncbi.nlm.nih.gov]

[…] consanguineous marriage was brought to us with complains of failure to thrive, abdominal distention, polyuria and polydypsia since 6 month of age. [journalofpediatriccriticalcare.com]

Clinical description Onset occurs during the first few months of life with failure to thrive, polyuria and rickets related to proximal tubular losses. [orpha.net]

2 (GLUT2 or SLC2A2) gene which codes for the glucose transporter protein 2 expressed in hepatocytes and renal tubular cells causing a defect in carbohydrate metabolism, hepatomegaly, severe hypophosphatemic rickets and failure to thrive. [scinapse.io]

Generalized osteopenia leading to fractures during childhood, with osteoporosis later in life, has also been reported. Some patients also display an abnormal fat distribution. [orpha.net]

Untreated patients usually complain of growth failure, osteoporosis, rickets, nephrolithiasis and eventually renal insufficiency. [scinapse.io]

Long-term complications include gout, hepatic adenomas, osteoporosis, renal disease, and short stature. Major progress has been made in managing this disorder. [ommbid.mhmedical.com]

onset. ( 15116130 ) Riva S....Somaschini M. 2004 41 A novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia. ( 15243984 ) Peduto A....Santer R. 2004 42 No mutation in the SLC2A2 [malacards.org]

We report a 3-year-old boy from southern India who presented with doll-like facies, florid rickets, massive hepatomegaly, growth retardation, renomegaly and laboratory evidence of proximal renal tubular dysfunction. [scinapse.io]

phosphatase Increased alkaline phosphatase Increased serum alkaline phosphatase Last updated: 2/27/2017 Fanconi Bickel syndrome is inherited in an autosomal recessive manner. [2] This means that a person affected with Fanconi Bickel syndrome has changed [rarediseases.info.nih.gov]

All patients showed symptoms of catabolism, such as hypoglycaemia, ketonuria, ketonaemia, decreased serum levels of the glucoblastic amino acids, increased serum levels of the branched chain amino acids, triglycerides, free fatty acids, phospholipoids [slideheaven.com]