ArticleGenetics in medicine : official journal of the American College of Medical Genetics2022
The current state of adult metabolic medicine in the United States: Results of a nationwide survey.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 10 citations in OpenAlex.
- Characterization of Adult Patients With Neurometabolic Disorders: A Cross-Sectional Study at a Tertiary Neurology Center in Sweden.JIMD reports · 2026Article
- Examining the role of social workers within clinical metabolic genetics care.Molecular genetics and metabolism reports · 2026Review
- An international observational study on transition of care from paediatric to adult services for patients with mucopolysaccharidosis II.BMC health services research · 2026Observational
- Racial and socioeconomic disparities in genetic evaluation and testing in the adult patient population.American journal of human genetics · 2026Article
- Navigating Adulthood with Maple Syrup Urine Disease: Patient and Caregiver Perspectives on Healthcare Transition and Independent Living.Research square · 2025Article
- Transition of Care for Pediatric Neurologic Disorders - Are We There Yet?Annals of Indian Academy of Neurology · 2025Article
- Euglycemic diabetic ketoacidosis related to SGLT2 inhibitor use in a patient with cobalamin C deficiency and diabetes.Annals of internal medicine. Clinical cases · 2023Article
- Healthcare Transition in Inherited Metabolic Disorders-Is a Collaborative Approach between US and European Centers Possible?Journal of clinical medicine · 2022Review
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
purposePatients with inherited metabolic disorders (IMDs) now have improved health outcomes and increased survival into adulthood. There is scant evidence on managing adults with IMDs. We present an analysis of current care practices for adults with IMDs in the United States.
methodsWe created and distributed an online survey to US members of the Society of Inherited Metabolic Disorders. The survey addressed ambulatory care, acute management, and health care transition (HCT) practices of adults with IMDs.
resultsThe survey was completed by 91 providers from 73 institutions. Most adult patients with IMDs receive lifelong care from a single metabolic clinician, predominantly in pediatric clinic settings. Adults receive comprehensive ambulatory metabolic care, but fewer trainees participate compared with pediatric visits. Most acute IMD management occurs in pediatric hospitals. Clinician comfort with HCT increased the frequency of HCT planning. Overall, all respondents felt that providing specialized care to adults with IMDs is high value.
conclusionOur survey demonstrates the paucity of clinical resources dedicated to adult metabolic medicine. Care is fragmented and varies by medical system. Interest in HCT is robust but would benefit from standardized practices. Our findings reinforce the need for greater focus on adult metabolic medicine in the United States.
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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.