Argininemia (ARGIN)

Argininemia(来自ICD-11)
别称:
Hyperargininemia
Arginase Deficiency
Arg1 Deficiency
Arginase-1 Deficiency
Arginase Deficiency Disease
Deficiency of Canavanase
Argin
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Basic Information
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Argininemia, also known as hyperargininemia, is related to carbamoyl phosphate synthetase i deficiency, hyperammonemia due to and ornithine transcarbamylase deficiency, hyperammonemia due to, and has symptoms including seizures and vomiting. An important gene associated with Argininemia is ARG1 (Arginase 1), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. The drugs Carbamide peroxide and Arginine have been mentioned in the context of this disorder. Affiliated tissues include liver and brain, and related phenotypes are global developmental delay and intellectual disability, severe
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MALACARDS
AR
Infant
<1/1000000
24
151
88

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