Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation.

摘要: Glutaric acidemia type I (GA-I) is a treatable autosomal recessive disorder of lysine, hydroxylysine, and tryptophan metabolism caused by glutaryl-CoA dehydrogenase (GCDH) deficiency. Presentation progression disease are variable ranging from asymptomatic carrier state to catastrophic encephalopathy. GA-I usually presents before age 18 months, triggered childhood infection, with mild or severe acute encephalopathy, striatal degeneration, movement disorder, most often dystonia. At presymptomatic stage diagnosis suggested clinically macrocephaly, radiologically widened Sylvian fissures biochemically the presence excess 3-hydroxyglutaric acid glutaric in urine. Treatment consists lysine-restricted diet carnitine supplementation, specific restrictions, as well symptomatic anticatabolic treatment intercurrent illness. Presymptomatic essential prognosis. We report case 16-year-old macrocephalic female late-onset unusual paucisymptomatic presentation fainting after exercise widespread white matter signal changes at MRI. She was compound heterozygote for novel mutation (IVS10-2A>G) affecting splicing GCDH common missense (c. 1240C>T; p.Arg402Trp, R402W). Interestingly, site nucleotide position found almost exclusively patients Chinese/Taiwanese origin (IVS10-2A>C).