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Arginase deficiency typically refers to decreased function of arginase I, the liver isoform of arginase. This deficiency is commonly referred to as hyperargininemia or arginemia. The disorder is hereditary and autosomal recessive. It is characterized by lowered activity of arginase in hepatic cells.
Argininemia is an autosomal recessive urea cycle disorder where a deficiency of the enzyme arginase causes a buildup of arginine and ammonia in the blood.Ammonia, which is formed when proteins are broken down in the body, is toxic if levels become too high; the nervous system is especially sensitive to the effects of excess ammonia.
11846 Ensembl ENSG00000118520 ENSMUSG00000019987 UniProt P05089 Q61176 RefSeq (mRNA) NM_000045 NM_001244438 NM_001369020 NM_007482 RefSeq (protein) NP_000036 NP_001231367 NP_001355949 NP_031508 Location (UCSC) Chr 6: 131.47 – 131.58 Mb Chr 10: 24.79 – 24.8 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse The human ARG1 gene encodes the protein arginase. Function Arginase catalyzes ...
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Recurrent mild hypoglycemia may fit a reactive hypoglycemia pattern, but this is also the peak age for idiopathic postprandial syndrome, and recurrent "spells" in this age group can be traced to orthostatic hypotension or hyperventilation as often as demonstrable hypoglycemia. [citation needed] Insulin-induced hypoglycemia
384 11847 Ensembl ENSG00000081181 ENSMUSG00000021125 UniProt P78540 O08691 RefSeq (mRNA) NM_001172 NM_009705 RefSeq (protein) NP_001163 NP_033835 Location (UCSC) Chr 14: 67.62 – 67.65 Mb Chr 12: 79.18 – 79.2 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Arginase, type II is an arginase protein that in humans is encoded by the ARG2 gene. Function Arginase catalyzes the ...
Pegzilarginase is indicated for the treatment of arginase 1 deficiency, also known as hyperargininemia. [1] [2] Society and culture. Legal status.
Regression analysis indicated positive correlations between arginase activity and the age of disease onset and between L-ornithine level and the duration of illness. Moreover, cluster analyses revealed that L-arginine and its main metabolites L-citrulline, L-ornithine and agmatine formed distinct groups, which were altered in the schizophrenia ...