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Entry Name Description Category Pathway Gene
H01032 N-acetylglutamate synthase deficiency N-acetylglutamate synthase (NAGS) deficiency is a rare inborn error of metabolism affecting ammonia detoxification in the urea cycle. The N-acetylglutamate is the absolutely required allosteric activator ... Inherited metabolic disease hsa00220 Arginine biosynthesis NAGS [HSA:162417] [KO:K11067]
H01398 Primary hyperammonemic disorders (Urea cycle disorders) Hyperammonemia is a metabolic condition characterized by elevated levels of ammonia in the blood, and may result in irreversible brain damage if not treated early and thoroughly. Hyperammonemia can be ... Inherited metabolic disease hsa00220 Arginine biosynthesis NAGS [HSA:162417] [KO:K11067]
CPS1 [HSA:1373] [KO:K01948]
OTC [HSA:5009] [KO:K00611]
ASS1 [HSA:445] [KO:K01940]
ASL [HSA:435] [KO:K01755]
ARG1 [HSA:383] [KO:K01476]
SLC25A15 [HSA:10166] [KO:K15101]
SLC25A13 [HSA:10165] [KO:K15105]
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