Long-term needs of adult patients with organic acidaemias: outcome and prognostic factors

摘要: Background: With improvements in the treatment of children with organic acidaemias (OA), number surviving to adulthood is increasing. To plan appropriate services for their care it important know what needs are. Objective: describe clinical and social problems affecting adult patients OA. Patients methods: We reviewed medical records 15 diagnosed Social attainment (housing, schooling occupation) was analysed. Nutritional status evaluated by body mass index (BMI) laboratory studies. Neurological visceral complications were noted. Cognitive outcome psychometric testing and/or educational attainment. Results: Seven had methylmalonic acidaemia (MMA), 4 isovaleric (IVA) propionic (PA). Ten female, median age 23.5 years (range 18–48). All but three late-onset disease. Two became pregnant during follow up. Four obtained university degrees working. Three-quarters required some kind support. a good nutritional status. Height normal IVA 3 PA patients. Osteoporosis present 2 out 8 assessed. A variety neurocognitive or seen two-thirds Metabolic decompensations unusual. Conclusions: The approach OA has be multidisciplinary, clinician dietician as core team, collaboration nurses specialists, workers other specialist support biochemical molecular laboratory.