title: Long-term needs of adult patients with organic acidaemias: outcome and prognostic factors.
abstract: BACKGROUND
  With improvements in the treatment of children with organic acidaemias (OA), the number surviving to adulthood is increasing. To plan appropriate services for their care it is important to know what their needs are.
  
  
  OBJECTIVE
  To describe the clinical and social problems affecting adult patients with OA.
  
  
  METHODS
  We reviewed the medical records of 15 adult patients diagnosed with OA. Social attainment (housing, schooling and occupation) was analysed. Nutritional status was evaluated by body mass index (BMI) and laboratory studies. Neurological and visceral complications were noted. Cognitive outcome was evaluated by psychometric testing and/or educational attainment.
  
  
  RESULTS
  Seven had methylmalonic acidaemia (MMA), 4 isovaleric acidaemia (IVA) and 4 propionic acidaemia (PA). Ten were female, and median age was 23.5 years (range 18-48). All but three had late-onset disease. Two patients became pregnant during follow up. Four patients had obtained university degrees and were working. Three-quarters of the patients required some kind of social support. All had a good nutritional status. Height was normal in IVA and 3 PA patients. Osteoporosis was present in 2 out of 8 patients assessed. A variety of neurocognitive or visceral complications were seen in two-thirds of the patients. Metabolic decompensations were unusual.
  
  
  CONCLUSIONS
  The approach to adult patients with OA has to be multidisciplinary, with the clinician and dietician as the core of the team, but with the collaboration of clinical nurses specialists, social workers and other specialist services and the support of a biochemical and molecular laboratory.
authors.affiliation: Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, UCLH, London, UK. emartinh.hdoc@salud.madrid.org
authors.forename: E
authors.initials: E
authors.lastname: Martín-Hernández
authors.forename: P J
authors.initials: PJ
authors.lastname: Lee
authors.forename: A
authors.initials: A
authors.lastname: Micciche
authors.forename: S
authors.initials: S
authors.lastname: Grunewald
authors.forename: R H
authors.initials: RH
authors.lastname: Lachmann
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood / Q000175:diagnosis* / Q000453:epidemiology / Q000628:therapy*; D002675:Child, Preschool; D015331:Cohort Studies; D005260:Female; D006301:Health Services Needs and Demand / Q000706:statistics & numerical data; D006801:Humans; D007223:Infant; D008134:Long-Term Care; D008297:Male; D008875:Middle Aged; D011379:Prognosis; D012189:Retrospective Studies; D016896:Treatment Outcome; D055815:Young Adult