Progresses of diagnosis and therapy in multiple acyl-CoA dehydrogenase deficiency / 国际儿科学杂志
International Journal of Pediatrics
;
(6): 518-521, 2010.
Article
in Chinese
| WPRIM
| ID: wpr-387310
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Type of study:
Diagnostic study
Language:
Chinese
Journal:
International Journal of Pediatrics
Year:
2010
Type:
Article
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