ArticleMolecular genetics and metabolism reports2017
Clinical characteristics of adult patients with inborn errors of metabolism in Spain: A review of 500 cases from university hospitals.
Article in Molecular genetics and metabolism reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
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Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it, 14 citations in OpenAlex.
- Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing).Frontiers in neurology · 2023Pooled it
- A Zebra in Horse's Clothing: Rethinking the Diagnosis of Rare Diseases.Molecular genetics & genomic medicine · 2025Review
- Evaluation of Patients Diagnosed with Inherited Metabolic Diseases in Adulthood.Sisli Etfal Hastanesi tip bulteni · 2025Article
- Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature.JIMD reports · 2024Article
- Adults with lysosomal storage diseases in the undiagnosed diseases network.Molecular genetics & genomic medicine · 2022Article
- Multidisciplinary Care of Patients with Inherited Metabolic Diseases and Epilepsy: Current Perspectives.Journal of multidisciplinary healthcare · 2022Review
- The diagnosis of inborn errors of metabolism in previously undiagnosed adults referred for medical genetics evaluation.Molecular genetics and metabolism reports · 2020Article
- Clouds over IMD? Perspectives for inherited metabolic diseases in adults from a retrospective cohort study in two Swiss adult metabolic clinics.Orphanet journal of rare diseases · 2020Article
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Authors and funding
10 authors at 8 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Patients with inborn errors of metabolism (IEMs) have become an emerging and challenging group in the adult healthcare system whose needs should be known in order to implement appropriate policies and to adapt adult clinical departments. We aimed to analyze the clinical characteristics of adult patients with IEMs who attend the most important Spanish hospitals caring for these conditions. A cohort study was conducted in 500 patients, categorized by metabolic subtype according to pathophysiological classification. The most prevalent group of IEMs was amino acid disorders, with 108 (21.6%) patients diagnosed with phenylketonuria. Lysosomal storage disorders were the second group, in which 32 (6.4%) and 25 (5%) patients had Fabry disease and Gaucher disease respectively. The great clinical heterogeneity, the significant delay in diagnosis after symptom onset, the existence of some degree of physical dependence in a great number of patients, the need for a multidisciplinary and coordinated approach, and the lack of specific drug treatment are common features in this group of conditions.
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