Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.2.1.20 (alpha-glucosidase)
 4,237 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Diabetes in humans and in experimental animals produces changes in the function and structure of the small intestine. The authors determined the activity of intestinal disaccharidases (maltase and sucrase) and of 6-phosphofructo-1-kinase (PFK-1) in enterocytes isolated from the small intestine of male Wistar rats (2.5 to 3 months old) with experimental nonobese type 2 diabetes, induced by streptozotocin (STZ) injection on the day of birth (n0-STZ) or on the 5th day of life (n5-STZ), with different degrees of hyperglycemia and insulinemia (n0-STZ and n5-STZ models). The glycemia (mmol/L) of the diabetic rats (n0-STZ: 8.77 +/- 0.47; n5-STZ: 20.83 +/- 0.63) was higher (P <.01) than that of the nondiabetic (ND) rats (5.99 +/- 0.63); on the contrary, the insulinemia (ng/mL) was significantly lower in both n0-STZ (1.74 +/- 0.53; P <.05) and n5-STZ (1.12 +/- 0.44; P <.01) diabetic rats than in normal rats (3.77 +/- 0.22). The sucrase and maltase activities (U/g protein) in diabetic rats (n0-STZ: 89 +/- 9 and 266 +/- 12; n5-STZ: 142 +/- 23 and 451 +/- 57) were significantly higher than those in the ND group (66 +/- 5 and 228 +/- 22). The PFK-1 activities (mU/mg protein) in the diabetic models (n0-STZ: 14.89 +/- 1.51; n5-STZ: 13.35 +/- 3.12) were significantly lower (P <.05) than in ND rats (20.54 +/- 2.83). The data demonstrated enzymatic alterations in enterocytes isolated from the small intestine of n0-STZ rats that are greater (P <.05) than in the more hyperglycemic and hypoinsulinemic n5-STZ animals. The results also show that nonobese type 2-like diabetes in the rat produces modifications that favor an increase in glucose absorption rates.
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PMID:Experimental type 2 diabetes induces enzymatic changes in isolated rat enterocytes. 1463 May 73

Many inborn errors of metabolism can cause cardiomyopathy. Cardiomyopathy associated with glycogen storage includes PRKAG2-associated glycogen storage disease (GSD), Danon disease, infantile-onset Pompe disease (GSD II), GSD III, GSD IV, and phosphofructokinase deficiency (Tarui disease or GSD VII).We present a 35-year-old female who presented with cardiomyopathy after a pregnancy complicated by primary hyperparathyroidism. She had enjoyed excellent health until her first pregnancy at age 33. One week postpartum, she developed dyspnea and an echocardiogram revealed left ventricular ejection fraction (LVEF) of 35%. A cardiac MRI was consistent with nonischemic cardiomyopathy with an infiltrative process. Endomyocardial biopsy showed striking sarcoplasmic vacuolization, excess glycogen by PAS staining, and frequent membrane-bound glycogen by electron microscopy, consistent with lysosomal GSD. Acid alpha-glucosidase (GAA) activity in skin fibroblasts was in the affected range for Pompe disease. Sequencing of the GAA gene revealed a paternally inherited pathogenic c.525delT (p.Glu176Argfs*45) and a de novo c.309C>G (p.Cys103Trp) with unknown pathogenicity. Testing of the familial mutations in her daughter indicated that the variants in the proband were in trans. 26-gene cardiomyopathy sequencing panel had normal results thereby excluding GSD III, Danon disease, Fabry disease, and PRKAG2-associated cardiomyopathy. Therefore, results strongly suggest a diagnosis of Pompe disease.Pompe disease has a broad disease spectrum, including infantile-onset (IOPD) and late-onset (LOPD) forms. LOPD typically presents with proximal muscle weakness and respiratory insufficiency in childhood or late adulthood. Our case may represent a very unusual presentation of adult LOPD with isolated cardiomyopathy without skeletal muscle involvement or respiratory failure.
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PMID:Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report. 2714 47