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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.
Argininosuccinic aciduria belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions in the cells of the liver. It processes excess nitrogen, generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys. [citation needed]
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 ...
Heart disease. Prostate, breast, and colorectal cancers. Type 2 diabetes. Insulin resistance. High cholesterol. All-cause mortality (death from any cause)
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 ...
DNA recovered from the bones of ancient Europeans is shedding light on the genetic origins of the debilitating disease multiple sclerosis. Gene that protected humans 5,000 years ago may be linked ...
A 2022 statement from the World Health Organization (WHO), defines the term this way: “Disease X is [used] to indicate an unknown pathogen that could cause a serious international epidemic.”
Glutaric acidemia type 1 (GA1) is an inherited disorder in which the body is unable to completely break down the amino acids lysine, hydroxylysine and tryptophan.Excessive levels of their intermediate breakdown products (glutaric acid, glutaryl-CoA, 3-hydroxyglutaric acid, glutaconic acid) can accumulate and cause damage to the brain (and also other organs [1]), but particularly the basal ...