The Turkish Journal of Pediatrics 2020 , Vol 62 , Num 4
Two patients with glutaric aciduria type 3: a novel mutation and brain magnetic resonance imaging findings
Sevil Dorum 1 ,Cengiz Havalı 2 ,Özlem Görükmez 3 ,Orhan Görükmez 3
1 Divisions of Metabolism Unit, Bursa Yuksek Ihtisas Training and Research Hospital, Bursa, Turkey
2 Divisions of Pediatric Neurology, Bursa Yuksek Ihtisas Training and Research Hospital, Bursa, Turkey
3 Department of Pediatrics, Department of Genetics, Bursa Yuksek Ihtisas Training and Research Hospital, Bursa, Turkey
DOI : 10.24953/turkjped.2020.04.017 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 genetic analysis and other laboratory and clinical findings. One of our patients had a homozygous mutation p.Arg322Trp (c.964C> T) of SUGCT (NM_001193311) gene. To the best of our knowledge this mutation has not been reported in the literature previously. Symmetrical periventricular and deep cerebral white matter abnormalities were detected on his brain magnetic resonance imaging (MRI).

Conclusion. We present two patients with GA-3 and a novel mutation in the SUGCT gene. Our findings expand the spectrum of causative mutations and clinical findings in GA-3. Keywords : brain magnetic resonance imaging, glutaric aciduria type 3, novel mutation, SUGCT gene

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