The meaning of ACIDURIA is the condition of having acid in the urine especially in abnormal amounts.

Jun 26, 2024 · ... aciduria and propionic acidemia · - Leucine degradation pathway and branched-chain organic acidemias · - Glutaric aciduria type 1. RELATED ...

Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD). ORPHA:943 Classification level: Disorder

Sep 20, 2024 · In argininosuccinic aciduria, this enzyme is missing or is not made correctly. If your baby does not make enough working argininosuccinate lyase ...

L-2-hydroxyglutaric aciduria is a rare, infantile-onset, autosomal recessive organic aciduria affecting exclusively the central nervous system.

Oct 18, 1984 · We report on these eight children with apparently benign methylmalonic aciduria. This phenotype may be a relatively frequent expression of the metabolic ...

Oct 19, 2023 · (B) The morphologic hallmarks of GA1 are macrocephaly with neuronal volume loss, basal ganglia abnormalities, and cerebrospinal fluid (CSF) ...

Type I is also called 3-methylglutaconyl-CoA hydratase deficiency, named for the enzyme you need to process a part of proteins called leucine. When your baby ...

Similar features are occasionally found in patients with glutaric aciduria type 1 (GA1), a rare inborn error of metabolism, and have led to the misdiagnosis of ...

2-Hydroxyglutaric aciduria ... 2-hydroxyglutaric aciduria is a rare neurometabolic disorder characterized by the significantly elevated levels of hydroxyglutaric ...