{"id":22196,"date":"2022-08-30T12:25:06","date_gmt":"2022-08-30T12:25:06","guid":{"rendered":"https:\/\/catweb.ro\/babydetect\/?p=22196"},"modified":"2024-01-15T17:57:39","modified_gmt":"2024-01-15T17:57:39","slug":"fanconi-bickel-syndrome-slc2a2-gene-gsd-xi","status":"publish","type":"post","link":"https:\/\/www.babydetect.be\/en\/fanconi-bickel-syndrome-slc2a2-gene-gsd-xi\/","title":{"rendered":"Fanconi-Bickel syndrome"},"content":{"rendered":"

SLC2A2 gene<\/strong><\/p>\n

Also known as<\/u>: Glycogen Storage Disease XI;Toni-Debr\u00e9-Fanconi syndrome; 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 \u2013 GSD XI<\/p>\n

OMIM#227810 <\/strong>https:\/\/omim.org\/entry\/227810<\/strong><\/a><\/p>\n

1. The Disease:<\/strong><\/h4>\n

A rare glycogen storage disease due to a deficiency in solute carrier family 2, facilitated glucose transporter member 2 and characterized by hepatorenal glycogen accumulation leading to severe renal tubular dysfunction and impaired glucose and galactose metabolism.<\/p>\n

2. The Symptoms:<\/h4>\n

Onset occurs during the first few months of life with failure to thrive, polyuria (increased amount of urine), normo\/hypokalemic metabolic acidosis (leads to potassium levels \u201cK\u201d), fasting hypoglycemia and post-feeding hyperglycemia. Metabolic acidosis, hypokalemia (low K), 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. Puberty can be delayed. Generalized osteoporosis can lead to fractures already during childhood. Some patients also display an abnormal fat distribution.<\/p>\n

3. Actions to take in case of early diagnosis:<\/h4>\n