hyperglycinemia


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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.
References in periodicals archive ?
In 2017 his six-year-old daughter Lyla Mae lost her battle with a rare genetic condition, Non-ketotic hyperglycinemia, which causes frequent seizures.
Charlie suffers with Non-Ketotic Hyperglycinemia (NKH) - a very rare genetic disorder which leads to abnormally high levels of a molecule called glycine and causes serious health problems.
For example, increased plasma glycine may be because of the metabolic disorder nonketotic hyperglycinemia (NKH) but also secondary to valproate therapy.
Due to the suspicion of non ketotic hyperglycinemia (NKH), Illumina Inherited Disease Sequencing Panel analysis performed and it was negative for NKH genes (glycine decarboxylase-GLDC, aminomethyltransferase, glycine cleavage system H protein-GCSH genes).
Glycine is a nonessential amino acid and is a biomarker for diagnosis of nonketotic hyperglycinemia. While phenylalanine is an essential amino acid, the observed effect on the concentrations seemed to be too minute to have important clinical impact.
It's to raise funds for Joseph's Goal - a charity named after eight-yearold Joseph Kendrick who is affected by NKH (Non-Ketotic Hyperglycinemia), a rare life-limiting genetic disorder.
Savery et al., "Glycine decarboxylase deficiency causes neural tube defects and features of nonketotic hyperglycinemia in mice," Nature Communications, vol.
Yoshida et al., "Glycine cleavage system, reaction mechanism, physiological significance, and hyperglycinemia," Proceedings of the Japan Academy, Series B, vol.
The youngster, who is visually impaired and has delayed development, has a disorder called Nonketotic hyperglycinemia which means he suffers seizures.
Jack Duffy is one of only seven children in the UK diagnosed with nonketotic hyperglycinemia (NKH), an inherited condition which attacks his brain.

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