ArticleJournal of inherited metabolic disease2009
Long-term needs of adult patients with organic acidaemias: outcome and prognostic factors.
Article in Journal of inherited metabolic disease, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 35 citations in OpenAlex.
- Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.Journal of inherited metabolic disease · 2021Guideline
- Article
- Practical Considerations for the Diagnosis and Management of Isovaleryl-CoA-Dehydrogenase Deficiency (Isovaleric Acidemia): Systematic Search and Review and Expert Opinions.International journal of neonatal screening · 2025Review
- Very long-term outcomes in 23 patients with cblA type methylmalonic acidemia.Journal of inherited metabolic disease · 2022Article
- Long-term renal outcome in methylmalonic acidemia in adolescents and adults.Orphanet journal of rare diseases · 2021Article
- An expanding spectrum of complications in isolated methylmalonic aciduria.Journal of mother and child · 2020Review
- Review
- Long Term Follow-Up of Polish Patients with Isovaleric Aciduria. Clinical and Molecular Delineation of Isovaleric Aciduria.Diagnostics (Basel, Switzerland) · 2020Article
- Organic acidurias in adults: late complications and management.Journal of inherited metabolic disease · 2018Review
- Bone health in patients with inborn errors of metabolism.Reviews in endocrine & metabolic disorders · 2018Review
- Dietary practices in propionic acidemia: A European survey.Molecular genetics and metabolism reports · 2017Article
- Dietary practices in isovaleric acidemia: A European survey.Molecular genetics and metabolism reports · 2017Article
- Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA).American journal of medical genetics. Part A · 2015Article
- Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.Orphanet journal of rare diseases · 2014Review
- New innovations: therapeutic opportunities for intellectual disabilities.Annals of neurology · 2013Review
- Clinical and neurocognitive outcome in symptomatic isovaleric acidemia.Orphanet journal of rare diseases · 2012Article
- Nutritional and Pharmacological Management during Chemotherapy in a Patient with Propionic Acidaemia and Rhabdomyosarcoma Botryoides.JIMD reports · 2012Article
- Biochemical Monitoring and Management During Pregnancy in Patients with Isovaleric Acidaemia is Helpful to Prevent Metabolic Decompensation.JIMD reports · 2012Article
Corrections and comments
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Authors and funding
5 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundWith 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.
objectiveTo describe the clinical and social problems affecting adult patients with OA. PATIENTS AND
methodsWe 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.
resultsSeven 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.
conclusionsThe 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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.