hyperglycinemia


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.

hy·per·gly·ci·ne·mi·a

(hī'pĕr-glī'si-nē'mē-ă), Elevated plasma glycine concentration.

hyperglycinemia

(hī′pər-glī′sə-nē′mē-ə)n. A condition in which there is an abnormally high level of 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.

hy·per·gly·ci·ne·mi·a

(hī'pĕr-glī'si-nē'mē-ă) Elevated plasma glycine concentration.
Synonym(s): hyperglycinaemia.

hy·per·gly·ci·ne·mi·a

(hī'pĕr-glī'si-nē'mē-ă) Elevated plasma glycine concentration.
Synonym(s): hyperglycinaemia.