title: New Cases of DHTKD1 Mutations in Patients with 2-Ketoadipic Aciduria.
abstract: 2-Ketoadipic aciduria (OMIM 204750), a defect in the catabolic pathway of tryptophan, lysine, and hydroxylysine, is characterized by elevations in 2-ketoadipic, 2-aminoadipic, and 2-hydroxyadipic acids. Patients with the aforementioned biochemical profile have been described with a wide range of clinical presentations, from early-onset developmental delay, epilepsy, ataxia, and microcephaly to completely normal. This broad range of phenotypes has led some to question whether 2-ketoadipic aciduria represents a true disease state or if the biochemical abnormalities found in these patients merely reflect an ascertainment bias. We present four additional individuals from two families, with 2-ketoadipic aciduria with compound heterozygous or homozygous mutations in DHTKD1, three of which remain asymptomatic.
authors.affiliation: Division of Metabolic Disorders, CHOC Children's Hospital, Orange, CA, USA.
authors.forename: Ashlee R
authors.initials: AR
authors.lastname: Stiles
authors.affiliation: Anschutz Medical Campus and Children's Hospital Colorado, University of Colorado at Denver, Aurora, CO, USA.
authors.forename: Leah
authors.initials: L
authors.lastname: Venturoni
authors.affiliation: Division of Psychology, CHOC Children's Hospital, Orange, CA, USA.
authors.forename: Grace
authors.initials: G
authors.lastname: Mucci
authors.affiliation: Division of Neurology, CHOC Children's Hospital, Orange, CA, USA.
authors.forename: Naser
authors.initials: N
authors.lastname: Elbalalesy
authors.affiliation: Anschutz Medical Campus and Children's Hospital Colorado, University of Colorado at Denver, Aurora, CO, USA.
authors.forename: Michael
authors.initials: M
authors.lastname: Woontner
authors.affiliation: Anschutz Medical Campus and Children's Hospital Colorado, University of Colorado at Denver, Aurora, CO, USA.
authors.forename: Stephen
authors.initials: S
authors.lastname: Goodman
authors.affiliation: Division of Metabolic Disorders, CHOC Children's Hospital, Orange, CA, USA. jabdenur@choc.org.|Department of Pediatrics, University of California Irvine, Irvine, CA, USA. jabdenur@choc.org.
authors.forename: Jose E
authors.initials: JE
authors.lastname: Abdenur
keywords: 2-Aminoadipic; 2-Ketoadipic aciduria; 2-Oxoadipic aciduria; DHTKD1; Hydroxylysine; Lysine; Organic acidemia; Tryptophan