Article
Promising outcomes in glutaric aciduria type I patients detected by newborn screening.
Metabolic brain disease - 1 Mar 2013
Lee Chee-Seng, Chien Yin-Hsiu, Peng Shinn-Forng, Cheng Pin-Wen, Chang Lih-Maan, Huang Ai-Chu, Hwu Wuh-Liang, Lee Ni-Chung
Abstract excerpt
Glutaric aciduria type I (GA-I) is an inborn error of lysine and tryptophan metabolism. Clinical manifestations of GA-I include dystonic or dyskinetic cerebral palsy, but when the symptoms occur, treatment is not effective. In Taiwan, newborn screening for GA-I started in 2001; we wish to evaluate the outcomes of patients detected through newborn screening. Newborns diagnosed with GA-I by abnormal dried blood...
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