hyperglycinemia
hyperglycinemia
[hi″per-gli″sĭ-ne´me-ah]hy·per·gly·ci·ne·mi·a
(hī'pĕr-glī'si-nē'mē-ă),hyperglycinemia
(hī′pər-glī′sə-nē′mē-ə)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.hy·per·gly·ci·ne·mi·a
(hī'pĕr-glī'si-nē'mē-ă)Synonym(s): hyperglycinaemia.
hy·per·gly·ci·ne·mi·a
(hī'pĕr-glī'si-nē'mē-ă)Synonym(s): hyperglycinaemia.