@incollection{3163956,
    title = "Rare Late-Onset Presentation of Glutaric Aciduria Type I in a
16-Year-Old Woman with a Novel GCDH Mutation",
    author = "Fraidakis, M. J. and Liadinioti, C. and Stefanis, L. and Dinopoulos, A. and and Pons, R. and Papathanassiou, M. and Garcia-Villoria, J. and Ribes, and A.",
    booktitle = "JIMD REPORTS, VOL 18",
    publisher = "SPRINGER-VERLAG BERLIN",
    year = "2015",
    isbn = "978-3-662-44863-2; 978-3-662-44862-5",
    pages = "85-92",
    doi = "10.1007/8904_2014_353",
    abstract = "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 and
progression of disease are variable ranging from asymptomatic carrier
state to catastrophic encephalopathy. GA-I usually presents before age
18 months, usually triggered by childhood infection, with mild or severe
acute encephalopathy, striatal degeneration, and movement disorder, most
often acute dystonia. At a presymptomatic stage diagnosis is suggested
clinically by macrocephaly, radiologically by widened Sylvian fissures
and biochemically by the presence of excess 3-hydroxyglutaric acid and
glutaric acid in urine. Treatment consists of lysine-restricted diet and
carnitine supplementation, specific diet restrictions, as well as
symptomatic and anticatabolic treatment of intercurrent illness.
Presymptomatic diagnosis and treatment are essential to prognosis. We
report the case of 16-year-old macrocephalic female with late-onset GA-I
and unusual paucisymptomatic presentation with fainting after exercise
and widespread white matter signal changes at MRI. She was compound
heterozygote for a novel mutation (IVS102A>G) affecting splicing at GCDH
and a common missense mutation (c.1240C>T; p.Arg402Trp, R402W).
Interestingly, the site of the novel mutation is the nucleotide position
of a common mutation found almost exclusively in patients of
Chinese/Taiwanese origin (IVS10-2A>C)."
}