title: Late-onset urea cycle disorder in adulthood unmasked by severe malnutrition.
abstract: Urea cycle disorders (UCDs) most often involve inherited deficiencies in genes that code for enzymes normally used by the urea cycle to breakdown nitrogen. UCDs lead to serious metabolic complications, including severe neurologic decompensation related to hyperammonemia. Although the majority of UCDs are revealed soon after birth, stressful events in adulthood can lead to unmasking of a partial, late-onset UCDs. In this report, we describe a late-onset UCD unmasked by severe malnutrition. Early, specialized nutrition therapy is a fundamental aspect of treating hyperammonemic crises in patients with UCD. The case presented here demonstrates the importance of early recognition of UCD and appropriate interventions with nutrition support.
authors.affiliation: Auburn University Harrison School of Pharmacy, Auburn, Alabama, USA and East Alabama Medical Center, Opelika, Alabama, USA. Electronic address: Diana.wells@auburn.edu.
authors.forename: Diana L
authors.initials: DL
authors.lastname: Wells
authors.affiliation: Auburn University Pharmaceutical Care Center, Auburn, Alabama, USA.
authors.forename: Jillian B
authors.initials: JB
authors.lastname: Thomas
authors.affiliation: Auburn University Harrison School of Pharmacy, Auburn, Alabama, USA and East Alabama Medical Center, Opelika, Alabama, USA.
authors.forename: Gordon S
authors.initials: GS
authors.lastname: Sacks
authors.affiliation: Internal Medicine Associates, P.C. and East Alabama Medical Center, Opelika, Alabama, USA.
authors.forename: L Anna
authors.initials: LA
authors.lastname: Zouhary
mesh_terms: D017668:Age of Onset; D005260:Female; D006801:Humans; D022124:Hyperammonemia / Q000175:diagnosis / Q000209:etiology; D044342:Malnutrition / Q000150:complications; D008875:Middle Aged; D009584:Nitrogen / Q000378:metabolism*; D014508:Urea / Q000378:metabolism*; D056806:Urea Cycle Disorders, Inborn / Q000150:complications / Q000175:diagnosis
chemical_list: D014508:Urea; D009584:Nitrogen
keywords: Hyperammonemia; Malnutrition; Urea cycle disorder