hyperglycinemia

(redirected from hyperglycinaemia)

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

/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

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

hyperglycinemia

an increased concentration 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.

hyperglycinemia

excessive glycine in the blood.
References in periodicals archive ?
2] Hyperglycinaemia causing nonspecific interference with glycine cleavage was suggested to be responsible for abnormal movements.
December: Jack Donohoe was one week old when his family were told he had an incurable metabolic disorder called non-ketotic hyperglycinaemia and wouldn't survive.
The commonest diagnoses were methyl malonic acIdaemia (n=2; 20%), non-ketotic hyperglycinaemia (n=7; 10%), fructose 1,6 diphosphatase deficiency (n=1; 10%), and biotinidase deficiency (n=1; 10%).
Clinical, ethical and legal considerations in the treatment of newborns with non-ketotic hyperglycinaemia.
Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia.
Wheelchair-bound Christy suffers from the debilitating condition non-ketotic hyperglycinaemia and lives at a home in Deal run by the Martha Trust.
Although it is classically associated with hyponatraemia, it can also cause hyperglycinaemia, hyperammonaemia or simply hypo-osmolality, depending on the irrigation fluid being used.
Seven-year-old Jordan suffers from rare genetic disease, non-ketotic hyperglycinaemia (NKH), which leaves him unable to speak or see.
When Jordan was born he was just the 151st person in the world to be diagnosed with nonketotic hyperglycinaemia (NKH), and the first in the North East.
When he was born he was just the 151st person in the world to be diagnosed with non-ketotic hyperglycinaemia (NKH), and the first in the North East.
So when mum and dad Sandra and Philip heard the family of Jordan Robertson, who had been born with rare genetic disease non-ketotic hyperglycinaemia (NKH), were struggling to pay for the pounds 6,500 pushchair, they wanted to help.
Jordan, seven, who has featured in the Chronicle, was born with the extremely rare genetic disease non-ketotic hyperglycinaemia, which prevents him from seeing or speaking and causes him frequent seizures.

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