SP030FANCONI-BICKEL SYNDROME (GLYCOGENOSIS XI) A NEW POTENTIAL THERAPEUTIC APPROACH
نویسندگان
چکیده
منابع مشابه
Modulation of glycogen synthesis by RNA interference: towards a new therapeutic approach for glycogenosis type II.
Glycogen storage disease type II (GSDII) or Pompe disease is an autosomal recessive disorder caused by defects in the acid alpha-glucosidase gene, which leads to lysosomal glycogen accumulation and enlargement of the lysosomes mainly in cardiac and muscle tissues, resulting in fatal hypertrophic cardiomyopathy and respiratory failure in the most severely affected patients. Enzyme replacement th...
متن کاملFanconi Bickel Syndrome: A Rare Entity
Fanconi-Bickel syndrome (FBS) is a rare inherited glycogen storage disease (GSD) caused by defects in facilitative Glucose Transporter (GLUT2) gene that codes for the glucose transporter protein 2 expressed in hepatocytes, pancreatic beta cells, enterocytes, and renal tubular cells. The clinical picture is characterized by glycogen accumulation in liver and kidney resulting in hepatomegaly and ...
متن کاملA Potential New Therapeutic Approach to DMD: PKC Theta Inhibition
Article history: Received 11 January 2017 Accepted 11 January 2017 Available online 13 January 2017 seems to be required for normal muscle development, but only during earlier ages than those studied here (Madaro et al., 2012). Diaphragm and cardiacmuscles are importantmuscles to be studied under a clinical point of view, with the diaphragm being the most affected muscle in mdx. Considering the...
متن کاملFanconi-Bickel syndrome--two cases report.
A one year eight month old male child and his nine month old female sibling were presented with Growth retardation, abdominal distension, doll-like faces, hepatomegaly, phosphaturia, proximal renal tubular dysfunction. The elder sibling also presented with glucosuria, hyperglycemia, hypoinsulinemia. The younger one later presented with galactosemia. Biopsy of liver on these two patients reveale...
متن کاملFanconi-Bickel Syndrome - Mutation in SLC2A2 Gene
Fanconi-Bickel Syndrome (FBS) is a rare autosomal recessive disorder of carbohydrate metabolism. The defect in the GLUT 2 receptors in the hepatocytes, pancreas and renal tubules leads to symptoms secondary to glycogen storage, glucose metabolism and renal tubular dysfunction. Derangement in glucose metabolism is classical with fasting hypoglycemia and post-prandial hyperglycemia. The authors r...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Nephrology Dialysis Transplantation
سال: 2018
ISSN: 0931-0509,1460-2385
DOI: 10.1093/ndt/gfy104.sp030