hyperglycinemia /hy·per·gly·cin·e·mia/ (-gli″sĭ-ne´me-ah) excess of glycine in the blood or other body fluids; ketotic h. includes ketotic disorders secondary to a variety of organic acidemias; nonketotic h. is a hereditary disorder of neonatal onset, due to a defect in the glycine cleavage system, with lethargy, absence of cerebral development, seizures, myoclonic jerks, and frequently coma and respiratory failure.
hyperglycinemia,
hyperglycinemia [hi″per-gli″sĭ-ne´me-ah]
hyperglycinemia
hy·per·gly·ci·ne·mi·a (h  p r-gls-n  m-)n. A hereditary disorder marked by an elevated concentration of glycine in the blood, usually present within chylomicrons. |
hyperglycinemia,
an elevated concentration of glycine in the blood.
hyperglycinemia [hi″per-gli″sĭ-ne´me-ah]
a hereditary aminoacidopathy involving excessive glycine in the blood and urine. One form is characterized by episodic vomiting, lethargy, dehydration, ketosis, and increased susceptibility to infection; a second form by generalized hypotonia, lethargy, absence of reflexes, and periodic myoclonic jerks. Called also glycinemia.
hyperglycinemia
excessive glycine in the blood.
hyperglycinemia
Isolated nonketotic hyperglycemia A group of AR conditions characterized by glycine accumulation 2º to a catabolic defect in glycine cleavage Clinical Presents shortly after birth with CNS depression, seizures,
convulsions, FTT, mental retardation, followed by atonia and areflexia Lab ↑↑↑ Glycine in CSF, serum, urine, ↑ plasma osmolality, dehydration. Cf Hyperglycemia.
Want to thank TFD for its existence? Tell a friend about us, add a link to this page, add the site to iGoogle, or visit the webmaster's page for free fun content.
| ?Page tools | ||
|---|---|---|
|