glycogen storage disease 0

A metabolic disorder (OMIM:240600) characterised by fasting hypoglycaemia presenting in infancy or early childhood, high ketones, and low alanine and lactate concentrations. Feeding relieves symptoms, but may itself cause postprandial hyperglycaemia and hyperlactataemia.
Molecular pathology
Defects of GYS2, which encodes liver glycogen synthase, cause glycogen storage disease type 0.

glycogen storage disease 0

Liver glycogen synthase deficiency Metabolic disease An AR metabolic disorder caused by a deficit of liver glycogen synthetase Clinical Morning fatigue, disorientation, convulsions, ketotic hypoglycemia when fasting which disappears on eating Management Protein-rich diet, night-time feedings of infants with uncooked corn starch

单词	glycogen storage disease 0
释义	glycogen storage disease 0 glycogen storage disease 0 A metabolic disorder (OMIM:240600) characterised by fasting hypoglycaemia presenting in infancy or early childhood, high ketones, and low alanine and lactate concentrations. Feeding relieves symptoms, but may itself cause postprandial hyperglycaemia and hyperlactataemia. Molecular pathology Defects of GYS2, which encodes liver glycogen synthase, cause glycogen storage disease type 0. glycogen storage disease 0 Liver glycogen synthase deficiency Metabolic disease An AR metabolic disorder caused by a deficit of liver glycogen synthetase Clinical Morning fatigue, disorientation, convulsions, ketotic hypoglycemia when fasting which disappears on eating Management Protein-rich diet, night-time feedings of infants with uncooked corn starch
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