ArticleJournal of inherited metabolic disease2015
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.
Article in Journal of inherited metabolic disease, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 113 papers, 4 of them syntheses that pooled it.
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Who cites it
113 citing papers in PubMed, 4 syntheses or guidelines pooled it, 233 citations in OpenAlex.
- Impact of Newborn Screening on Survival and Developmental Outcome in Classic Isovaleric Aciduria: A Meta-Analysis.Journal of inherited metabolic disease · 2025Pooled it
- Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.Journal of inherited metabolic disease · 2021Guideline
- Neuropsychological attributes of urea cycle disorders: A systematic review of the literature.Journal of inherited metabolic disease · 2019Pooled it
- Neonatal mortality and outcome at the end of the first year of life in early onset urea cycle disorders--review and meta-analysis of observational studies published over more than 35 years.Journal of inherited metabolic disease · 2016Pooled it
- Biomarkers for liver disease in urea cycle disorders.Molecular genetics and metabolism · 2021Trial
- Chronic kidney disease in propionic acidemia.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Trial
- Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders.Journal of inherited metabolic disease · 2018Trial
- Sarcopenia in Pediatric Intoxication Type Inborn Errors of Metabolism: A Frequent and Underrecognized Condition.Journal of inherited metabolic disease · 2026Article
- Prevalence, Disease Onset and Clinical Outcome in Arginase 1 Deficiency: Cross-Border Surveillance in Germany, Austria, and Switzerland.Journal of inherited metabolic disease · 2026Article
- Historical Perspectives, Classification and Diagnostic Approaches of Inborn Errors of Metabolism: A Systematic Review and Meta-Analysis.Metabolites · 2026Review
- Ammonia storm: unmasking a suspected rare proximal urea cycle disorder in adulthood.BMC neurology · 2026Article
- Citrullinemia type 1 manifesting with a stroke-like episode: a case report.Oxford medical case reports · 2026Article
- Impact of long-term nitrogen scavenger therapy on clinical outcome in individuals with urea cycle disorders.Scientific reports · 2026Article
- Emerging neurological and cognitive symptoms in patients with late-onset ornithine transcarbamylase deficiency: a narrative review.Metabolic brain disease · 2026Review
- The kidney in genetic metabolic disorders.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026Article
- NOD-m: a novel clinical score for predicting hearing loss in inherited metabolic disorders.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2025Article
- Propionic Acidemia: Gray Matter Disease Meets Subcortical Leukodystrophy.Journal of inherited metabolic disease · 2025Article
- Nitrogen Scavengers: History, Clinical Considerations and Future Prospects.Journal of inherited metabolic disease · 2025Review
- 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
- Acute myeloneuropathy due to Glutaric aciduria-1: Expanding the phenotypic spectrum.Global medical genetics · 2025Article
53 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issuedErratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.2015 · Garcia Cazorla, Angeles [corrected to Garcia-Cazorla, Angeles]
Authors and funding
59 authors at 20 institutions in 18 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe disease course and long-term outcome of patients with organic acidurias (OAD) and urea cycle disorders (UCD) are incompletely understood.
aimsTo evaluate the complex clinical phenotype of OAD and UCD patients at different ages.
resultsAcquired microcephaly and movement disorders were common in OAD and UCD highlighting that the brain is the major organ involved in these diseases. Cardiomyopathy [methylmalonic (MMA) and propionic aciduria (PA)], prolonged QTc interval (PA), optic nerve atrophy [MMA, isovaleric aciduria (IVA)], pancytopenia (PA), and macrocephaly [glutaric aciduria type 1 (GA1)] were exclusively found in OAD patients, whereas hepatic involvement was more frequent in UCD patients, in particular in argininosuccinate lyase (ASL) deficiency. Chronic renal failure was often found in MMA, with highest frequency in mut(0) patients. Unexpectedly, chronic renal failure was also observed in adolescent and adult patients with GA1 and ASL deficiency. It had a similar frequency in patients with or without a movement disorder suggesting different pathophysiology. Thirteen patients (classic OAD: 3, UCD: 10) died during the study interval, ten of them during the initial metabolic crisis in the newborn period. Male patients with late-onset ornithine transcarbamylase deficiency were presumably overrepresented in the study population.
conclusionsNeurologic impairment is common in OAD and UCD, whereas the involvement of other organs (heart, liver, kidneys, eyes) follows a disease-specific pattern. The identification of unexpected chronic renal failure in GA1 and ASL deficiency emphasizes the importance of a systematic follow-up in patients with rare diseases.
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