| GA I | Glutaric aciduria type I |
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| glutaric | <chemistry> Of, pertaining to, or designating, an acid so called; as, glutaric ethers. Glutaric acid, an organic acid obtained as a white crystalline substance, isomeric with pyrotartaric acid. Synonym: normal pyrotartaric acid. Origin: Glutamic + tartaric. Source: Websters Dictionary (01 Mar 1998) |
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| glutaric acid | <biochemistry> A chemical intermediate in the metabolism of the amino acids lysine and tryptophan which has the chemical formula C5H8O4. It is found in green sugar beets and in water extracted from wool. (09 Oct 1997) |
| glutaric aciduria |
An inherited disorder marked by multiple neurological deficits in childhood, including motor dysfunction, developmental delay, and brain atrophy. It is caused by defective manufacture of glutaryl-coenzyme A dehydrogenase.
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| glutaric acid |
a dicarboxylic acid occurring at high levels in the blood and urine in glutaricaciduria.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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| glutaricacidemia |
1. glutaricaciduria (def. 1). 2. an excess of glutaric acid in the blood.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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| glutaricaciduria |
1. an autosomal recessive aminoacidopathy characterized by accumulation and excretion of glutaric acid in the urine. It occurs in two types: Type I is due to deficiency of glutaryl-CoA dehydrogenase and is characterized by excretion also of 3-hydroxyglutaric acid, progressive dystonia and dyskinesia, hypoglycemia, mild ketosis and acidosis, opisthotonus, choreoathetosis, motor delay, mental retardation, hypotonia, and death within the first decade. Type II is due to deficiency of either electron transfer flavoprotein (α-subunit) or electron transfer flavoprotein:ubiquinone oxidoreductase and is characterized by accumulation and excretion of glutaric and 2-hydroxyglutaric acids as well as multiple organic acids normally oxidized by mitochondrial flavin-containing acyl-CoA dehydrogenases, which require both proteins for activity. Additional manifestations include hypoglycemia without ketosis, metabolic acidosis, and a spectrum of phenotypic manifestations varying with the particular defect. Increasing age of onset is correlated with decreasing severity; when of neonatal onset it may be accompanied by congenital anomalies and is rapidly fatal. Type II is called also multiple acyl CoA dehydrogenation deficiency. 2. excretion of glutaric acid in the urine.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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