glycogen storage disease IV

Andersen disease, brancher deficiency, brancher disease, amylopectinosis, glycogen branching enzyme deficiency An AR metabolic disorder, caused by an absence of α-1,4-glucan:α-1,4-glucan 6-glucosyltransferase, the 'brancher' enzyme, resulting in muscle weakness, especially of the tongue, hepatosplenomegaly, hepatic fibrosis, followed by cirrhosis, ascites, early death with normal mental development Clinical Growth failure, hypoglycemia, lactic acidosis, oral and anal lesions, IBD, neutropenia, ↓ neutrophil chemotaxis and metabolism Treatment Liver transplantation ameliorates the pancellular enzyme deficiencies by mechanism of microchimerism; GSD IV responds to liver transplantation with ↓ deposition of amylopectin in liver and ↓ neuromuscular or cardiac morbidity due to extrahepatic amylopectin deposits. Cf Debranching enzyme.

单词	glycogen storage disease iv
释义	glycogen storage disease IV glycogen storage disease IV Andersen disease, brancher deficiency, brancher disease, amylopectinosis, glycogen branching enzyme deficiency An AR metabolic disorder, caused by an absence of α-1,4-glucan:α-1,4-glucan 6-glucosyltransferase, the 'brancher' enzyme, resulting in muscle weakness, especially of the tongue, hepatosplenomegaly, hepatic fibrosis, followed by cirrhosis, ascites, early death with normal mental development Clinical Growth failure, hypoglycemia, lactic acidosis, oral and anal lesions, IBD, neutropenia, ↓ neutrophil chemotaxis and metabolism Treatment Liver transplantation ameliorates the pancellular enzyme deficiencies by mechanism of microchimerism; GSD IV responds to liver transplantation with ↓ deposition of amylopectin in liver and ↓ neuromuscular or cardiac morbidity due to extrahepatic amylopectin deposits. Cf Debranching enzyme.
随便看	flama flamage flaman management partners ltd flambe flambeau flambeau river state forest flambeaus flambeaux flambe glaze flamborough head flamborough ladies fastball league flamboyan flamboyance flamboyances flamboyancies flamboyancy flamboyan-de-jardin flamboyant flamboyante flamboyant finish flamboyantly flamboyants flamboyant school ehdo ehdoc