作者: Joseph D. Tobias , Jan Klamar , Allan Beebe , Mumin Hakim , David P. Martin
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摘要: Glutaric aciduria type-1 (GA-1) is an autosomal recessive metabolic disorder due to the deficiency of enzyme, glutaryl-CoA dehydrogenase. The enzymatic defect leads secondary damage central nervous system accumulation glutaric acid. Due progressive neurologic effects with spasticity and orthopedic deformities, surgical anesthetic cares are frequently required. We present a 13-year-old girl acidemia type 1 who required care for posterior spinal fusion. Previous reports these patients reviewed, end-organ involvement discussed, options presented. J Med Cases. 2015;6(6):257-263 doi: http://dx.doi.org/10.14740/jmc2096w