Aciduria is a clinical condition characterized by the abnormal excretion of organic acids in the urine. It represents a group of metabolic disorders that can lead to significant health issues if not properly managed.
Oct 17, 2024
Oct 14, 2024 · A rare, genetic, inborn error of metabolism disorder characterized by neonatal-onset of developmental delay, hypotonia, hepatomegaly, lactic acidemia, increased ...
Oct 14, 2024 · A rare genetic disorder of pyrimidine metabolism characterized by early onset of megaloblastic anemia, global developmental delay, and failure to thrive, ...
Oct 30, 2024 · 3-Methylglutaconic aciduria (MGA) is any of at least five metabolic disorders that impair the body's ability to make energy in the mitochondria.
Oct 14, 2024 · 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 ...
20 hours ago · Argininosuccinic aciduria: identification and reactions of the abnormal metabolite in a newly described form of mental disease, with some preliminary metabolic ...
Oct 28, 2024 · Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous metabolic disorder of cobalamin (cbl; vitamin B12) metabolism, ...
8 days ago · Jaundice, mental retardation, and cataracts commonly occur. The diagnosis can be made by identification of the sugar in the urine and by a markedly elevated ...
Oct 24, 2024 · 3-Hydroxyisobutyric aciduria is a rare metabolic condition in which the body is unable to breakdown certain amino acids (the building blocks of protein).
Nov 2, 2024 · Loss of function variants in L2HGDH gene causing L-2-hydroxyglutaric aciduria. MYC Regulation of D2HGDH and L2HGDH Influences the Epigenome and Epitranscriptome ...