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.
Artículo
en Chino
| 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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Tipo de estudio:
Estudio diagnóstico
Idioma:
Chino
Revista:
International Journal of Pediatrics
Año:
2010
Tipo del documento:
Artículo
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