glycogen storage disease Ia

glycogen storage disease Ia

Glucose-6-phosphatase deficiency, hepatorenal glycogenosis, von Gierke disease Metabolic disease A rare AR disorder of glycogen storage, due to a defect in glucose-6-phosphatase, resulting in glycogen accumulation primarily in liver and kidney Clinical Hypoglycemia, lipidemia, xanthoma formation, ↑ uric acid, ↑ lactic acid, liver adenomas, which may become malignant, hepatomegaly, bleeding diathesis, vasoconstrictive pulmonary HTN, convulsions, failure to thrive, lordosis
References in periodicals archive ?
M2 PHARMA-February 15, 2017-PoC Capital to Fund Viking Therapeutics' Development of VK2809 in Glycogen Storage Disease Ia
United States-based Viking Therapeutics has demonstrated an encouraging effect in the preliminary results from a proof-of-concept study assessing the company's VK2809 in an in vivo model of a rare orphan disorder named glycogen storage disease Ia (GSD 1a), it was reported on Friday.

Full browser ?