描述
Malonic Aciduria, is an autosomal recessive metabolic disorder caused by a genetic mutation which disrupts the activity of Malonyl-Coa decarboxylase. This enzyme breaks down Malonyl-CoA (a fatty acid precursor and a fatty acid oxidation blocker) into Acetyl-CoA and carbon dioxide. A defect in Malonyl-CoA decarboxylase results in accumulation of ammonia in the blood; methylmalonic acid in the plasma; creatinine in the serum; 3-Aminoisobutyric acid, 3 Hydroxypropionic acid, 3 hydoxyvaleric acid, glycine, acylcrnitine and methylmalonic acid in the urine; and methylmalonic acid in the spinal fluid. Symptoms include cardiomyopathy, growth retardation, ketosis, nephrosis, pancreatitis, respiratory distress, and neutropenia.