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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00185 | Citrullinemia | Citrullinemia (CTLN) is an autosomal recessive disease caused by a deficiency of argininosuccinate synthetase/citrin and characterized primarily by elevated serum and urine citrulline levels. | Inherited metabolic disorder |
(CTLN1) ASS1 [HSA:445] [KO:K01940] (CTLN2) SLC25A13 [HSA:10165] [KO:K15105] |
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| H01398 | Primary hyperammonemia (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 disorder |
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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