Argininosuccinic aciduria (ASA) is a condition that causes dangerous amounts of ammonia to build up in the body. Individuals with ASA are unable to process the waste product ammonia, which is produced when the body breaks down amino acids. ASA is also described as a urea cycle condition.
Sep 25, 2024
Sep 15, 2024 · What is argininosuccinic aciduria. Argininosuccinic aciduria is an inherited (genetic) condition that prevents the body from removing ammonia properly.
Sep 15, 2024 · 3-Methylglutaconic aciduria is caused by a group of inherited (genetic) conditions that prevent the body from making energy properly. There are five different ...
6 days ago · Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood, and ammonia is toxic if the levels become too high.
Sep 30, 2024 · There are 2 types of Glutaric aciduria: Type I (GA1) and Type II. (GA2) [1]. The more common form GA1 is caused by mutations in the GCDH gene located on ...
Sep 29, 2024 · Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous metabolic disorder of cobalamin (cbl; vitamin B12) metabolism, ...
3 days ago · Methylmalonic aciduria (MMA) is a group of rare genetic metabolic disorders resulting from defects in methylmalonyl coenzyme A mutase (MCM) or intracellular ...
Sep 19, 2024 · Loss of function variants in L2HGDH gene causing L-2-hydroxyglutaric aciduria. MYC Regulation of D2HGDH and L2HGDH Influences the Epigenome and Epitranscriptome ...
Oct 2, 2024 · SSADH deficiency also leads to abnormal accumulation of the compound succinic semialdehyde, which is reduced or converted to GBH (gamma-hydroxybutyric acid).
Sep 18, 2024 · Predicted to be involved in cobalamin metabolic process. Predicted to be active in mitochondrion. Is expressed in body wall musculature.
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