Phosphoglycerate Mutase: Difference between revisions
David Canner (talk | contribs) No edit summary |
No edit summary |
||
| Line 23: | Line 23: | ||
== Phosphoglycerate Mutase Deficiency == | == Phosphoglycerate Mutase Deficiency == | ||
When phosphoglycerate mutase has a genetic defect, it results in a muscle disease that interferes with the processing of carbohydrates. The onset can occur anywhere from childhood to adulthood. The inheritance pattern is autosomal recessive. | When phosphoglycerate mutase has a genetic defect, it results in a muscle disease that interferes with the processing of carbohydrates. The onset can occur anywhere from childhood to adulthood. The inheritance pattern is autosomal recessive. <ref>http://www.mda.org/disease/pgam.html</ref> Phosphoglycerate mutase deficicncy patients may experience CNS symptoms such as mental retardation and seizures. Certain individuals may experience a purely myopathic syndrome with progressive proximal muscle weakness and incidents of myoglobinuria, exercise intolerance, may become easy fatigued with cramps and urine discoloration. Diagnosing this deficiency can be done with Laboratory tests that demonstrate and increased serum CK level. Or there are diagnostic tests available that test for the absence of the enzyme. <ref>http://disability.ucdavis.edu/disease_deatails.php?id=45</ref> | ||
==Additional Resources== | ==Additional Resources== | ||
For additional information, see: [[Carbohydrate Metabolism]] | For additional information, see: [[Carbohydrate Metabolism]] | ||