What does hyperglycinemia, nonketotic mean?
Definitions for hyperglycinemia, nonketotic
hy·per·g·lycin·e·mia, non·ke·tot·ic
This dictionary definitions page includes all the possible meanings, example usage and translations of the word hyperglycinemia, nonketotic.
Wikipedia
hyperglycinemia, nonketotic
Glycine encephalopathy is a rare autosomal recessive disorder of glycine metabolism. After phenylketonuria, glycine encephalopathy is the second most common disorder of amino acid metabolism. The disease is caused by defects in the glycine cleavage system, an enzyme responsible for glycine catabolism. There are several forms of the disease, with varying severity of symptoms and time of onset. The symptoms are exclusively neurological in nature, and clinically this disorder is characterized by abnormally high levels of the amino acid glycine in bodily fluids and tissues, especially the cerebrospinal fluid. Glycine encephalopathy is sometimes referred to as "nonketotic hyperglycinemia" (NKH), as a reference to the biochemical findings seen in patients with the disorder, and to distinguish it from the disorders that cause "ketotic hyperglycinemia" (seen in propionic acidemia and several other inherited metabolic disorders). To avoid confusion, the term "glycine encephalopathy" is often used, as this term more accurately describes the clinical symptoms of the disorder.
U.S. National Library of Medicine
Hyperglycinemia, Nonketotic
An autosomal recessive metabolic disorder caused by deficiencies in the mitochondrial GLYCINE cleavage system; an enzyme system with four components: P-, T-, H-, and L-proteins. Deficiency of the P-protein is the most prevalent form. Neonatal and juvenile presentations have been reported. Neonatal onset is more common and may be fatal. Clinical features include SEIZURES; hypotonia; APNEA; and COMA. When the illness presents in childhood there tends to be an associated progressive DEMENTIA accompanied by extrapyramidal signs. (Menkes, Textbook of Child Neurology, 5th ed, p46; Jpn J Hum Genet 1997 Mar;42(1):13-22)
Numerology
Chaldean Numerology
The numerical value of hyperglycinemia, nonketotic in Chaldean Numerology is: 1
Pythagorean Numerology
The numerical value of hyperglycinemia, nonketotic in Pythagorean Numerology is: 8
Translations for hyperglycinemia, nonketotic
From our Multilingual Translation Dictionary
- hiperglicinemia, no cetónicoSpanish
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