Article
Two patients with glutaric aciduria type 3: a novel mutation and brain magnetic resonance imaging findings.
The Turkish journal of pediatrics - 1 Jan 2020
Dorum Sevil, Havalı Cengiz, Görükmez Özlem, Görükmez Orhan
Abstract excerpt
BACKGROUND: Glutaric Aciduria Type 3 (GA-3) is a rare metabolic disease which is inherited autosomal recessively and characterized by isolated glutaric acid excretion. To date, a limited number of cases have been reported in the literature. We present two patients with GA3 who were diagnosed with the isolated increased level of glutaric acid in urine. CASE: Glutaric aciduria type 1 and type 2 were excluded by...
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