Progresses of diagnosis and therapy in multiple acyl-CoA dehydrogenase deficiency
10.3760/cma.j.issn.1673-4408.2010.05.025
- VernacularTitle:多种酰基辅酶A脱氢酶缺乏症的诊治进展
- Author:
Yazhi XING
- Publication Type:Journal Article
- Keywords:
Multiple acyl-CoA dehydrogenase deficiency;
Glutaric acidemia Ⅱ;
Electron transfer flavoprotein;
Electron transfer flavoprotein-ubiquinone oxidoreductase
- From:
International Journal of Pediatrics
2010;37(5):518-521
- CountryChina
- Language:Chinese
-
Abstract:
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a common inborn error of fatty-acid metabolism characterized by vomiting, acidosis and lipid storage myopathy, and the clinical manifestations of MADD are highly heterogeneous. MADD can be diagnosed by the elevation of multiple acyl-carnitine in blood and glutaric acid or other organic acid in urine. The neonatal-onset patients have severe symptoms and poor prognosis. However, oral riboflavin supplementation (can completely rescue) ameliorate the clinical and laboratory disorders rapidly especially to the riboflavin responsive MADD. Additionally, patients not sensitive to riboflavin should also take low lipid, low protein and high carbonhydrate diet besides riboflavin.
