title: 30-year follow-up of a patient with classic citrullinemia.
abstract: Citrullinemia is a urea cycle defect requiring long-term care with nutritional and pharmacological management. Despite treatment, morbidity and mortality of this disease remain high, and long-term complications include mild to profound mental retardation, seizures, and growth deficiency. We report a 31-year old woman with classic, neonatal-onset citrullinemia who developed progressive hypertrophic cardiomyopathy and cataracts, neither of which has been recognized previously as a complication of the disease or a consequence of long-term drug treatment.
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
authors.forename: Nicola
authors.initials: N
authors.lastname: Brunetti-Pierri
authors.forename: Kerri M
authors.initials: KM
authors.lastname: Lamance
authors.forename: Richard Alan
authors.initials: RA
authors.lastname: Lewis
authors.forename: William J
authors.initials: WJ
authors.lastname: Craigen
mesh_terms: D000328:Adult; D002312:Cardiomyopathy, Hypertrophic / Q000188:drug therapy / Q000209:etiology; D002386:Cataract / Q000209:etiology; D020159:Citrullinemia / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy*; D005260:Female; D005500:Follow-Up Studies; D056572:Histone Deacetylase Inhibitors / Q000009:adverse effects / Q000627:therapeutic use; D006801:Humans; D008134:Long-Term Care; D010648:Phenylacetates / Q000009:adverse effects / Q000627:therapeutic use
chemical_list: D056572:Histone Deacetylase Inhibitors; D010648:Phenylacetates; C025136:phenylacetic acid