title: [The clinical spectrum of urea cycle defects in adult patients].
abstract: Urea cycle defects belong to the most common metabolic disorders with a cumulative incidence of 1:8000. A common trait of urea cycle defects is a disturbed detoxification of ammonia leading to hyperammonemia in the event of a high nitrogen load. Most patients develop symptoms in the neonatal period or in infancy, e. g. vomiting, seizures and disturbed consciousness. Depending on the affected enzyme and its residual activity, patients differ in the age at first presentation, the character and severity of symptoms and in the susceptibility to metabolic derangement. The presence of hyperammonemia and an altered plasma amino acid profile give the essential diagnostic clues. Since modern therapeutic measures have prolonged the life expectancy of these patients and provided the possibility of a first presentation in adulthood, patients with urea cycle defects have become an increasing challenge in internal medicine. The reported case series illustrates the heterogeneous clinical course of these disorders from childhood to adulthood.
authors.affiliation: Klinik für Hepatologie, Gastroenterologie und Infektiologie der Heinrich-Heine-Universität Düsseldorf. alexis@mueller-marbach.de
authors.forename: Alex Michael
authors.initials: AM
authors.lastname: Müller-Marbach
authors.forename: V
authors.initials: V
authors.lastname: Keitel
authors.forename: T
authors.initials: T
authors.lastname: Göbel
authors.forename: B-E
authors.initials: BE
authors.lastname: Jensen
authors.forename: S
authors.initials: S
authors.lastname: Göbels
authors.forename: C
authors.initials: C
authors.lastname: Baur
authors.forename: S
authors.initials: S
authors.lastname: Schneitler
authors.forename: V
authors.initials: V
authors.lastname: Schneitler
authors.forename: P
authors.initials: P
authors.lastname: Behm
authors.forename: M
authors.initials: M
authors.lastname: Becker
authors.forename: C
authors.initials: C
authors.lastname: Brinkmeyer
authors.forename: M
authors.initials: M
authors.lastname: Foede
authors.forename: F
authors.initials: F
authors.lastname: Hüttig
authors.forename: M
authors.initials: M
authors.lastname: Beyer
authors.forename: M
authors.initials: M
authors.lastname: Breuer
authors.forename: S
authors.initials: S
authors.lastname: Filke
authors.forename: C
authors.initials: C
authors.lastname: Giesecke
authors.forename: U
authors.initials: U
authors.lastname: Haars
authors.forename: J
authors.initials: J
authors.lastname: Haes
authors.forename: U
authors.initials: U
authors.lastname: Heinzel-Pleines
authors.forename: S
authors.initials: S
authors.lastname: Kann
authors.forename: S J
authors.initials: SJ
authors.lastname: Kocheril
authors.forename: S
authors.initials: S
authors.lastname: Mallach
authors.forename: C
authors.initials: C
authors.lastname: Sagert
authors.forename: N
authors.initials: N
authors.lastname: Qvartskhava
authors.forename: R
authors.initials: R
authors.lastname: Winzer
authors.forename: M G
authors.initials: MG
authors.lastname: Donner
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D056806:Urea Cycle Disorders, Inborn / Q000175:diagnosis* / Q000628:therapy*; D055815:Young Adult