Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0948265 (metabolic syndrome)
 24,271 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Type Ia Glycogen storage disease is an autosomal recessive hepatic metabolic disease due to a lack of glucose-6-phosphatase (G-6-Pase) activity presenting with growth retardation, lactic acidosis, fasting hypoglycemia with hypoinsulinemia, hyperuricemia, hepatomegaly, and hepatic adenoma with a risk of malignancy. The gene that encodes G-6-Pase was mapped to 17q21. There are some genotype-phenotype correlations. We report a case with delF327 mutation which is devoid of G-6-Pase activity; however clinical presentation in this case differs somewhat. Although correction of hypoglycemia and lactic acidosis with nocturnal intragastric feeding and uncooked starch therapy improves growth failure, mean height of the patients is often less than the target. Normal height and obesity in this case with hepatic steatosis and low hepatic glycogen storage requires clinical reevaluation since there are some overlapping phenotypes between type Ia GSD and metabolic syndrome. The phenomenon may be related to insulin resistance as a consequence of early aggressive nutrition therapy with frequent low glycemic index meals.
 ...
PMID:Obesity and reversed growth retardation in a child with type Ia glycogen storage disease. 2066 51

Based on the authors own research shown a relationship of metabolic disorders in children with GSD with the metabolic syndrome. Studied the parameters of lipid and carbohydrate metabolism in children with both abdominal and endocrine obesity. Was shown the Significance a high direct correlation in children with cholelithiasis on the background of obesity and metabolic syndrome. Obtained data enable us to assert that in children with cholelithiasis on the background of obesity forms classical clinical picture of metabolic syndrome.
 ...
PMID:[Gallstone disease in children with obesity]. 2280 75