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. PATIENTS AND 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.
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. PATIENTS AND 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: C Pérez-Cerdá; B Merinero; P Rodríguez-Pombo; B Pérez; L R Desviat; S Muro; E Richard; M J García; J Gangoiti; P Ruiz Sala; P Sanz; P Briones; A Ribes; M Martínez-Pardo; J Campistol; M Pérez; R Lama; M L Murga; T Lema-Garrett; A Verdú; M Ugarte Journal: Eur J Hum Genet Date: 2000-03 Impact factor: 4.246
Authors: S B van der Meer; F Poggi; M Spada; J P Bonnefont; H Ogier; P Hubert; E Depondt; D Rapoport; D Rabier; C Charpentier Journal: J Pediatr Date: 1994-12 Impact factor: 4.406
Authors: E Martín-Hernández; P Quijada-Fraile; L Oliveros-Leal; Mt García-Silva; C Pérez-Cerdá; M Baro-Fernández; V Pérez-Alonso; Jl Vivanco Journal: JIMD Rep Date: 2012-03-21
Authors: Yiouli P Ktena; Scott M Paul; Natalie S Hauser; Jennifer L Sloan; Andrea Gropman; Irini Manoli; Charles P Venditti Journal: Am J Med Genet A Date: 2015-05-10 Impact factor: 2.578
Authors: Sarah C Grünert; Udo Wendel; Martin Lindner; Michael Leichsenring; K Otfried Schwab; Jerry Vockley; Willy Lehnert; Regina Ensenauer Journal: Orphanet J Rare Dis Date: 2012-01-25 Impact factor: 4.123
Authors: Matthias R Baumgartner; Friederike Hörster; Carlo Dionisi-Vici; Goknur Haliloglu; Daniela Karall; Kimberly A Chapman; Martina Huemer; Michel Hochuli; Murielle Assoun; Diana Ballhausen; Alberto Burlina; Brian Fowler; Sarah C Grünert; Stephanie Grünewald; Tomas Honzik; Begoña Merinero; Celia Pérez-Cerdá; Sabine Scholl-Bürgi; Flemming Skovby; Frits Wijburg; Anita MacDonald; Diego Martinelli; Jörn Oliver Sass; Vassili Valayannopoulos; Anupam Chakrapani Journal: Orphanet J Rare Dis Date: 2014-09-02 Impact factor: 4.123
Authors: A Daly; A Pinto; S Evans; M F Almeida; M Assoun; A Belanger-Quintana; S M Bernabei; S Bollhalder; D Cassiman; H Champion; H Chan; J Dalmau; F de Boer; C de Laet; A de Meyer; A Desloovere; A Dianin; M Dixon; K Dokoupil; S Dubois; F Eyskens; A Faria; I Fasan; E Favre; F Feillet; A Fekete; G Gallo; C Gingell; J Gribben; K Kaalund Hansen; N M Ter Horst; C Jankowski; R Janssen-Regelink; I Jones; C Jouault; G E Kahrs; I L Kok; A Kowalik; C Laguerre; S Le Verge; R Lilje; C Maddalon; D Mayr; U Meyer; A Micciche; U Och; M Robert; J C Rocha; H Rogozinski; C Rohde; K Ross; I Saruggia; A Schlune; K Singleton; E Sjoqvist; R Skeath; L H Stolen; A Terry; C Timmer; L Tomlinson; A Tooke; K Vande Kerckhove; E van Dam; T van den Hurk; L van der Ploeg; M van Driessche; M van Rijn; A van Wegberg; C Vasconcelos; H Vestergaard; I Vitoria; D Webster; F J White; L White; H Zweers; A MacDonald Journal: Mol Genet Metab Rep Date: 2017-10-03