The signs and symptoms of this disorder typically appear in early childhood. Almost all affected children have delayed development. Additional signs and symptoms can include weak muscle tone (hypotonia), seizures, diarrhea, vomiting, and low blood sugar (hypoglycemia). A heart condition called cardiomyopathy, which weakens and enlarges the heart muscle, is another common feature of<unk> . Some common symptoms in<unk> , such as cardiomyopathy and metabolic acidosis, are triggered by the high concentrations of<unk> -CoA in the cytoplasm. High levels of<unk> -CoA will inhibit β-oxidation of fatty acids through deactivating the carrier of fatty acyl group, CPT1, and thus, blocking fatty acids from going into the mitochondrial matrix for oxidation. A research conducted in Netherlands has suggested that carnitine supplements and a low fat diet may help to reduce the level of malonic acid in our body.
Malonyl-CoA decarboxylase deficiency
Pyruvate kinase deficiency
3-Hydroxyisobutyryl-CoA deacylase deficiency
3-Methylcrotonyl-CoA carboxylase deficiency
Holocarboxylase synthetase deficiency
Glutaminase deficiency
2,4 Dienoyl-CoA reductase deficiency
Carbamoyl phosphate synthetase I deficiency