We report a patient harbouring a homozygous mutation of SLC2A2 who presented a dramatic exacerbation of metabolic acidosis in the context of a viral infection, owing to both ketosis and major urinary bicarbonate loss. [zora.uzh.ch]

Case presentation We report the case of a 4-year-old boy, born to non-consanguineous Black African parents, who presented with failure to thrive and rachitic features in infancy. [go.gale.com]

FBS can present as galactosemia in neonatal screening as the same transporter is required for galactose [8]. FBS presenting as nuclear cataracts and hyperglycemia in the newborn period have also been described [9]. [indianpediatrics.net]

Presentation of FBS usually occurs in early infancy but the late presentation has also been reported [7]. [ijpeonline.biomedcentral.com]

Present in infancy (fever, vomiting, growth failure, and rickets). Later patients present with dwarfism, protuberant abdomen, hepatomegaly, moon-shaped face, and fat deposition about the shoulders and abdomen. [accessanesthesiology.mhmedical.com]

• Short Stature

  stature) persist into adulthood. [ncbi.nlm.nih.gov]

  Short stature, excessive urine production, and rickets related to proximal tubular losses are additional clinical features. Individuals may also have fractures in childhood due to generalized osteopenia. Life expectancy is normal. [sema4.com]

  Later in life, children may have short stature and a swollen liver and spleen (hepatosplenomegaly).[5684] Fanconi Bickel syndrome is caused by mutations to the SLC2A2 gene and is inherited in an autosomal recessive manner. [rarediseases.org]

  […] liver) Phosphatase, alkaline inc (serum) Phosphate dec (serum) Phosphate inc (urine) Potassium dec (serum) Transaminases (ASAT/ALAT) normal/inc (serum) Triglycerides inc (plasma) Uric acid inc (plasma) Symptoms glucosuria renal failure, acute/chronic short [metagene.de]

• Falling

  Because blood glucose concentrations fall rapidly, this test should only be performed with secure intravenous access and with frequent clinical and biochemical monitoring. [clinicaladvisor.com]

  Liver glycogen content falls overnight to its daily minimum value before breakfast. Glycogen degradation in the cytosol of hepatocytes is accomplished by two enzymes. [bioscirep.org]

• Splenomegaly

  Clinical features : Hepatomegaly, failure to thrive, cirrhosis, splenomegaly, jaundice, hypotonia, waddling gait, lumbar lordosis. [patient.info]

  Systemic examination revealed diffuse, non tender, firm hepatomegaly (liver span 9cm) without splenomegaly. Signs of proximal muscle weakness were present. Quantification of urine output revealed polyuria (urine output 6 mL/kg/hr). [indianpediatrics.net]

  An abdominal ultrasound revealed gross hepatomegaly, moderate splenomegaly, and normal echo texture of his liver. Other organs were normal; there was no evidence of nephrocalcinosis. [springermedizin.de]

  Deficiency Cardinal Clinical Features Distinctive Features Type 0 Glycogen synthase Fasting hypoglycemia and ketosis No hepatomegaly; postprandial hyperglycemia and hyperlactatemia Type IA Glucose-6-phosphatase Severe hypoglycemia; hepatomegaly; No splenomegaly [clinicaladvisor.com]

• Failure to Thrive

  Case presentation We report the case of a 4-year-old boy, born to non-consanguineous Black African parents, who presented with failure to thrive and rachitic features in infancy. [go.gale.com]

  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]

  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]

• Vomiting

  Fanconi syndrome feeding difficulties, poor feeding fever growth retardation, poor growth hyperglycemia hypoglycemia mental retardation metabolic acidosis onset, infancy onset, neonatal osteodystrophy pancreatitis prominent abdomen psychomotor retardation vomiting [metagene.de]

  Present in infancy (fever, vomiting, growth failure, and rickets). Later patients present with dwarfism, protuberant abdomen, hepatomegaly, moon-shaped face, and fat deposition about the shoulders and abdomen. [accessanesthesiology.mhmedical.com]

  Symptoms Initial symptoms usually appear between the age of 3 and 10 months and they include: Failure to grow Failure to thrive Fever Vomiting Glucose (sugar) in urine Normal or slightly enlarged liver at birth Polyuria (excessive urination) Galactose [liverdirectory.com]

  The initial symptoms reported were fever, vomiting, growth failure, and rickets between the ages of three and ten months. [encyclopedia.com]

  At the age of 4 months, her urine became thick and foamy without polydipsia, polyuria, fever, vomiting, or diarrhea. [frontiersin.org]

• Hepatomegaly

  Most patients have the typical combination of clinical symptoms: hepatomegaly secondary to glycogen accumulation, glucose and galactose intolerance, fasting hypoglycemia, a characteristic tubular nephropathy, and severely stunted growth. [doi.org]

  Later patients present with dwarfism, protuberant abdomen, hepatomegaly, moon-shaped face, and fat deposition about the shoulders and abdomen. Emergence of the teeth and development of puberty are retarded. [accessanesthesiology.mhmedical.com]

  Fanconi-Bickel syndrome (FBS) is characterized by hepatomegaly due to glycogen hepatic storage, renal glycogen accumulation, glycosuria, aminoaciduria and phosphaturia. It was first described in 1949 and classified as a glycogen storage disease XI. [medigraphic.com]

• Hepatosplenomegaly

  Later in life, children may have short stature and a swollen liver and spleen (hepatosplenomegaly).[5684] Fanconi Bickel syndrome is caused by mutations to the SLC2A2 gene and is inherited in an autosomal recessive manner. [rarediseases.org]

  The protruding abdomen is the result of growth retardation and hepatosplenomegaly, being evident in early childhood. Puberty is delayed. [ivami.com]

  Growth retardation and hepatosplenomegaly resulting in a protruding abdomen are evident by early childhood. Puberty is delayed. Generalized osteopenia leading to fractures during childhood, with osteoporosis later in life, has also been reported. [orpha.net]

  The accumulation of glycogen can also cause swelling of the liver and spleen (hepatosplenomegaly). Between meals, affected individuals may have low blood sugar (hypoglycemia). [rareguru.com]

• Osteoporosis

  In addition, it generalized osteopenia leading to fractures during childhood and described osteoporosis in later stages of life. Some patients also exhibit an abnormal distribution of fatty tissue. [ivami.com]

  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]

  Rickets and osteoporosis later in life are constant features. Glomerular filtration rate is normal or low normal, and there is no progression to glomerular insufficiency or deterioration of tubular defects. [accessanesthesiology.mhmedical.com]

  Protruding abdomen Enlarged liver Abnormal fat deposits around shoulders and abdomen Dwarfism Moon-shaped face Delayed puberty Complications associated with the symptoms of Fanconi-Bickel syndrome include bone fractures, pancreatitis (pancreas swelling), and osteoporosis [liverdirectory.com]

• Severe Short Stature

  short stature) persist into adulthood. [ncbi.nlm.nih.gov]

  The syndrome results in hepatomegaly secondary to glycogen accumulation, glucose and galactose intolerance, fasting hypoglycaemia, a characteristic proximal tubular nephropathy and severe short stature. [5] References [ edit ] ^ synd/65 at Who Named It [en.wikipedia.org]

  Clinical features : hepatomegaly, glucose and galactose intolerance, fasting hypoglycaemia, proximal tubular nephropathy and severe short stature. Symptoms persist into adulthood. Treatment : there is no specific therapy available. [patient.info]

• Genu Valgum

  He had rounded doll-like facies, enamel hypoplasia and features of rickets in form of frontal bossing, wrist widening, rachitic rosary and genu valgum. [indianpediatrics.net]

  Genu valgum, st. Helena familial[?] Genu varum[?] Genuphobia[?] Geographic tongue[?] German syndrome[?] Germinal cell aplasia[?] Gerodermia osteodysplastica[?] Gershinibaruch Leibo syndrome[?] Gerstmann syndrome[?] Gestational diabetes mellitus[?] [encyclopedia.kids.net.au]

• Excitement

  With many thanks for your collaboration and looking forward to an informative and exciting data collection. Thank you for your participation. [patients.erknet.org]

• Polyuria

  Polyuria, metabolic acidosis, recurrent episodes of severe hypoglycemia, growth retardation, hepatomegaly, and rickets or osteomalacy are clinical consequences of this disease. [semanticscholar.org]

  Signs and symptoms begin in the first few months of life and include growing slower than expected (failure to thrive), excessive urination (polyuria), and weakened bones (rickets). [rarediseases.org]

  The presenting clinical findings were hyperglycemia and polyuria detected during an episode of acute enteritis. [nature.com]

  This disease manifests itself in the first months of life with developmental delay, polyuria and losses related to the proximal tubules rickets. [ivami.com]

• Renal Insufficiency

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

  Glomerular involvement has also been reported and comprised nephromegaly, glomerular hyperfiltration, microalbuminuria (as early as 5 years of age) [36], and a reduction in glomerular filtration rate in some adults without renal insufficiency [29]. [intechopen.com]

• Kidney Failure

  Kidney failure tends to develop early. It may also involve your eyes, liver, bones and other organs. For acquired Fanconi syndrome, once a healthcare provider determines its cause, your kidneys may have the potential to recover. [my.clevelandclinic.org]

  A child with Fanconi syndrome and cystinosis may have failure to thrive, slowed growth, and chronic kidney disease. Interstitial nephritis develops, leading to progressive renal failure that may be fatal before adolescence. [healthjade.net]

• Renomegaly

  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]

Laboratory workup included urinalysis, renal and liver function tests including fasting and postprandial blood sugar; serum calcium, phosphorus, alkaline phosphatase, sodium and potassium, lipid profile, and detailed blood gas. [hindawi.com]

The initial laboratory workup revealed normal serum creatinine 37 umol/L, reduced serum phosphorus 0.81 mmol/L, markedly elevated serum alkaline phosphatase 2178 unit/L, low serum vitamin D 16.8 ng/ml, elevated blood glucose level 8.9 mmol/L with normal [surgicalcasereports.springeropen.com]

This child was initially treated as having X-linked hypophosphatemic rickets because of the loss of two male siblings with almost similar clinical presentation; however, with detailed workup this was excluded. [springermedizin.de]

• Glycosuria

  Glycogenosis of the liver with aminoaciduria and glycosuria. Clinical and biochemical studies. Klin Wochenschr. 1963; 41: 818-25. Odievre M. Hepato-renal glycogenosis with complex tubulopathy. 2. Cases of a new entity. [medigraphic.com]

  Here, we present a case of Fanconi-Bickel syndrome in a patient who was diagnosed at 47 days of age with the findings of glycosuria, hyperglycemia and an elevated level of alkaline phosphatase (ALP). [openaccess.bezmialem.edu.tr]

  Glycosuria, as seen in most of our tested patients, is moderate to severe at the time of diagnosis, however mild glycosuria in a milder phenotype of this syndrome has been reported [18]. [ijpeonline.biomedcentral.com]

  Physical examination was normal, biochemical analyses were suggestive of FBS: glycosuria, proteinuria, phosphaturia, generalized aminoaciduria, and increased levels of urinary β2-microglobulin, serum glucose and serum alkaline phosphatase. [nature.com]

• Albuminuria

  Heart Failure Importance: Only 1 class of glucose-lowering agents-sodium-glucose cotransporter 2 (SGLT2) inhibitors-has been reported to decrease the risk of cardiovascular events primarily by reducingSeptember 1, 2017: JAMA CardiologyAssociations of albuminuria [read.qxmd.com]

  […] reproduced from [5(n D 18) and diabetic patients (n D 19) are reproduced from [5].Urine 3-DF (mmol / mol creatinine)01020304050 Control DM Glut-2 (-/-) Plasma 3-DF (M)0.00.51.01.5 Control A Bis limited to tubular cells, glomerular hyperWltration, micro-albuminuria [dokumen.tips]

  Urin e 3- DF (m mo l / m ol c reat inin e) 0 10 20 30 40 50 Control DM Glut-2 (-/-) Plas ma 3-DF (M ) 0.0 0.5 1.0 1.5 Control A Bis limited to tubular cells, glomerular hyperWltration, micro-albuminuria, and mesangial expansion, point to the pres-d Metabolism [docslide.net]

  Albuminuria was more important in subjects who started their diet later and those with poor metabolic balance [12]. [intechopen.com]

• Hypoglycemia

  […] exacerbation of hypoglycemia due to an increased renal loss of glucose caused by a transport defect for glucose and galactose across the basolateral membranes of the proximal tubular cells. [accessanesthesiology.mhmedical.com]

  Most patients have the typical combination of clinical symptoms: hepatomegaly secondary to glycogen accumulation, glucose and galactose intolerance, fasting hypoglycemia, a characteristic tubular nephropathy, and severely stunted growth. [doi.org]

  Other signs and symptoms include fasting hypoglycemia, ketonuria, diarrhea and hypercholesterolemia. [ivami.com]

  Additional laboratory findings include fasting hypoglycemia, ketonuria and hypercholesterolemia. [orpha.net]

• Hypophosphatemia

  Metabolic acidosis, hypokalemia, hypophosphatemia and rickets are the consequence of severe proximal tubule dysfunction. Growth retardation and hepatosplenomegaly resulting in a protruding abdomen are evident by early childhood. [orpha.net]

  […] classified as glycogen storage disease- type XI), severe hypophosphatemic rickets and failure to thrive due to proximal renal tubular dysfunction which is characterized by glucosuria, phosphaturia, generalized aminoaciduria, bicarbonate wasting and hypophosphatemia [journalofpediatriccriticalcare.com]

  Other laboratory findings included fasting hypoglycemia (low levels of sugar in the blood), ketonuria (high levels of ketones in the urine), high hypercholesterolemia (high cholesterol), hypophosphatemia (high phosphate levels in the blood), and high [encyclopedia.com]

• Hypophosphatemia

  Metabolic acidosis, hypokalemia, hypophosphatemia and rickets are the consequence of severe proximal tubule dysfunction. Growth retardation and hepatosplenomegaly resulting in a protruding abdomen are evident by early childhood. [orpha.net]

  […] classified as glycogen storage disease- type XI), severe hypophosphatemic rickets and failure to thrive due to proximal renal tubular dysfunction which is characterized by glucosuria, phosphaturia, generalized aminoaciduria, bicarbonate wasting and hypophosphatemia [journalofpediatriccriticalcare.com]

  Other laboratory findings included fasting hypoglycemia (low levels of sugar in the blood), ketonuria (high levels of ketones in the urine), high hypercholesterolemia (high cholesterol), hypophosphatemia (high phosphate levels in the blood), and high [encyclopedia.com]

• Hyperuricemia

  […] clinical manifestations, radiological findings revealing rickets, and from characteristic results from laboratory investigations showing proximal renal tubular dysfunction (massive glucosuria, proteinuria, phosphaturia, hypophosphatemia, aminoaciduria and hyperuricemia [orpha.net]

  The clinical manifestations are growth retardation, hepatomegaly, hypoglycemia, lactic acidemia, hyperuricemia, and hyperlipidemia. [ommbid.mhmedical.com]

  The hallmark features of this disease are hypoglycemia, lactic acidosis, hyperuricemia, and hyperlipidemia. The severity of the hypoglycemia and lactic acidosis can be such that in the past affected individuals died in infancy. [themedicalbiochemistrypage.org]

  Although the phenotype range is broad, the majority of clinical manifestations are hepatomegaly, failure to thrive, hypoglycemia, hyperlactatemia, hyperuricemia, and hyperlipidemia. [egl-eurofins.com]

• Alkaline Phosphatase Increased

  phosphatase Greatly elevated alkaline phosphatase High serum alkaline phosphatase Increased alkaline phosphatase Increased serum alkaline phosphatase [ more ] 0003155 Failure to thrive Faltering weight Weight faltering [ more ] 0001508 Generalized aminoaciduria [rarediseases.info.nih.gov]

Symptomatic treatment is directed towards a stabilization of glucose homeostasis and compensation for renal losses of various solutes. [doi.org]

Management and treatment Treatment of FBG is symptomatic revolving around compensation of the renal syndrome with replacement of water and electrolytes. Vitamin D and phosphate supplements are essential for preventing hypophosphatemic rickets. [orpha.net]

Treatment and Prevention There is no fully effective treatment for Fanconi Bickel syndrome. Supplement treatments consisting of water, electrolytes, and vitamin D may be used in combination with a galactose-restricted diet. [liverdirectory.com]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

Treatment There is no way to fully cure Fanconi Bickel syndrome. [amsety.com]

Prognosis The long-term prognosis is unknown. The renal tubular dysfunction persists into adulthood but in most cases does not appear to progress to renal failure. [orpha.net]

Prognosis The long-term prognosis has not been determined. It may depend on the severity of symptoms and early diagnosis and treatment of symptoms. [encyclopedia.com]

Prognosis : mostly death by age 4, due to cirrhosis and portal hypertension. Type V: McArdle's disease See the separate article on McArdle's Glycogen Storage Disease. [patient.info]

Etiology FBG is caused by homozygous or compound heterozygous mutations in the SLC2A2 gene (3q26.2-q27). [orpha.net]

Etiology The etiology of GSD is best understood by following the metabolic events leading to the synthesis (glycogenesis) and degradation of glycogen (glycogenolysis). [knowledge.statpearls.com]

Although it is postulated to be due to phosphaturia induced down- regulation of renal tubular 1 alpha-hydroxylase activity, the etiology of hypercalciuria remains uncertain [7]. [indianpediatrics.net]

Summary Epidemiology The prevalence is unknown but less than 200 cases have been described in the literature so far. [orpha.net]

GLUT2 deficiency - Glycogenosis due to GLUT2 deficiency Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hepatic disease - Rare renal disease Classification (ICD10): - Endocrine, nutritional and metabolic diseases - Epidemiological [csbg.cnb.csic.es]

2 : Xq24 Phosphorylase (McArdle's), severe phenotype: 11q13 Triosephosphate isomerase : 12p13 Acid Maltase Deficiency (Glycogen storage disease 2 (GSD2); Pompe disease) ● Acid α-1,4-glucosidase (GAA) ; Chromosome 17q25.3; Recessive Nosology: LGMD 2V Epidemiology [neuromuscular.wustl.edu]

Conclusion Although with the first description of a congenital defect of facilitative glucose transport the main steps in the pathophysiology of Fanconi-Bickel syndrome have been elucidated, numerous pathophysiological mechanisms are far from clear and [doi.org]

Although with the first description of a congenital defect of facilitative glucose transport the main steps in the pathophysiology of Fanconi-Bickel syndrome have been elucidated, numerous pathophysiological mechanisms are far from clear and thus encourage [ncbi.nlm.nih.gov]

In addition to the clinical and molecular genetic aspects of FBS, this review discusses the pathophysiology of the disease and compares it to recent findings in GLUT2 deficient transgenic animals. [eurekaselect.com]

Treatment and Prevention There is no fully effective treatment for Fanconi Bickel syndrome. Supplement treatments consisting of water, electrolytes, and vitamin D may be used in combination with a galactose-restricted diet. [liverdirectory.com]

Awareness of early findings and initiation of galactose-restricted high protein diet may provide metabolic control and prevent late complications. [openaccess.bezmialem.edu.tr]

Uncooked (raw) cornstarch (1-1.5 grams per kg) administered at bedtime prevents morning hypoglycemia and ketosis. Daytime hypoglycemia tends to be mild and snacks every 2 to 4 hours prevent hypoglycemia. [clinicaladvisor.com]

The deterioration of the intestinal absorption of monosaccharides is not sufficient to prevent the increase in plasma glucose above the normal range. [ivami.com]