Two patients with glutaric aciduria type 3: a novel mutation and brain magnetic resonance imaging findings

Abstract

Background. Glutaric Aciduria Type 3 (GA-3) is a rare metabolic disease which is inherited autosomal \rrecessively and characterized by isolated glutaric acid excretion. To date, a limited number of cases have been \rreported in the literature. We present two patients with GA3 who were diagnosed with the isolated increased \rlevel of glutaric acid in urine. \rCase. Glutaric aciduria type 1 and type 2 were excluded by genetic analysis and other laboratory and clinical \rfindings. One of our patients had a homozygous mutation p.Arg322Trp (c.964C> T) of SUGCT (NM_001193311) \rgene. To the best of our knowledge this mutation has not been reported in the literature previously. Symmetrical \rperiventricular and deep cerebral white matter abnormalities were detected on his brain magnetic resonance \rimaging (MRI). \rConclusion. We present two patients with GA-3 and a novel mutation in the SUGCT gene. Our findings expand \rthe spectrum of causative mutations and clinical findings in GA-3.