Inherited metabolic diseases are among the most feared diagnoses in pediatrics, capable of turning a healthy newborn into a critically ill infant within hours, yet a new study from Türkiye suggests that the physicians standing at the front line of detection feel alarmingly unprepared to make them. The research, published in BMC Pediatrics, surveyed pediatricians across the country and found that while most encounter these rare conditions in their daily practice, roughly two-thirds doubt their own ability to reach even a preliminary diagnosis, and knowledge scores were weakest precisely in the areas that matter most at the bedside: treatment, clinical recognition, and prevention.
The study, led by Mehmet Tolga Köle of the Department of Pediatrics at Etlik City Hospital in Ankara, together with colleagues from institutions in Ankara and Istanbul, set out to measure a dimension of pediatric care that is rarely quantified: the gap between what front-line physicians know about inherited metabolic diseases, or IMDs, and what they can actually do when a suspicious case appears in their clinic or emergency department. IMDs constitute a heterogeneous group of disorders, each individually rare but collectively representing significant causes of morbidity and mortality in the neonatal period and throughout childhood. Individually, a single metabolic disorder may affect only a handful of infants per year, but taken together they form a diagnostic landscape that no pediatrician can safely ignore.
The research team designed a descriptive cross-sectional study and distributed a 27-item online questionnaire to pediatricians working in different geographical regions of Türkiye. The instrument was structured to capture three domains: sociodemographic and professional characteristics, knowledge of IMDs, and attitudes along with clinical experience and practice patterns. Of the responses collected, 169 participants completed the questionnaire in full, and these formed the final analytical sample. The median age of respondents was 33 years, and 60.9 percent were female, indicating a relatively young cohort with limited accumulated clinical exposure to these rare conditions, a demographic reality that shapes how the findings should be interpreted.
The knowledge results reveal a striking asymmetry. The highest rates of correct answers clustered around newborn screening, a domain in which physicians receive standardized, protocol-driven guidance. Fully 91.1 percent of participants correctly identified the timing of newborn screening, and 77.5 percent knew which diseases are included in the national newborn screening program. These are facts that can be memorized, printed on wall charts, and reinforced by systematic screening workflows that operate independently of individual physician expertise.
The picture changes dramatically when the questions move from protocol to practice. Only 23.1 percent of respondents answered correctly on treatment approaches for IMDs. Just 34.3 percent could identify common clinical manifestations, 41.4 percent answered prevention questions correctly, and only 46.7 percent could reliably name the clinical features that should raise suspicion of an underlying metabolic disorder. In other words, the physicians surveyed were strongest where health systems provide scaffolding and weakest where clinical judgment must carry the load — precisely the scenario in which a delayed diagnosis carries the greatest cost. Many IMDs are treatable if recognized early, and therapeutic windows for conditions such as urea cycle defects, organic acidemias, and fatty acid oxidation disorders can be measured in hours or days. A physician who knows when newborn screening occurs but cannot recognize the constellation of symptoms that suggests a metabolic crisis represents a vulnerability in the diagnostic chain that no screening program alone can close.
The attitudes and self-assessment data reinforce this concern. Overall, 67.5 percent of participants reported a lack of self-efficacy in establishing a preliminary diagnosis of an IMD. Nearly the same proportion, 66.9 percent, considered their prior training on the subject inadequate. And 79.9 percent — four out of every five pediatricians surveyed — reported difficulties in the follow-up of diagnosed cases. The coexistence of these three findings is what gives the study its urgency: physicians are seeing these patients relatively frequently in their clinics, yet they do not feel capable of diagnosing them, they believe their education did not prepare them, and once a diagnosis is made by someone else, they struggle to manage the ongoing care.
Statistical analysis of the survey responses added texture to these patterns. Participants who perceived their training as adequate had significantly higher total knowledge scores and a greater number of correct responses, with p-values of 0.038 and 0.028 respectively, suggesting that self-assessed preparedness tracks meaningfully with objective performance rather than reflecting mere confidence. Conversely, participants who reported difficulties in following up diagnosed IMD cases had significantly lower fully correct scores, with a p-value of 0.039, indicating that the follow-up struggle is not simply a matter of institutional logistics or referral bottlenecks but is entangled with genuine deficits in knowledge.
Taken together, the authors argue, these findings describe an education-to-practice gap in IMD care. Pediatricians are not failing because they lack interest or exposure; they are failing because passive exposure to rare diseases during training and sporadic attendance at educational events do not translate into the kind of procedural, case-based competence that rare-disease recognition demands. Rare conditions resist the ordinary learning model of medicine, in which repetition builds intuition. A pediatrician may see a single case of maple syrup urine disease or propionic acidemia once in a decade of practice, which is not enough repetition for pattern recognition to develop naturally.
The study’s conclusions point toward specific remedies. Rather than relying on passive exposure or attendance at conferences, the authors call for structured, supervised, case-based training that simulates the diagnostic reasoning IMDs require. They further emphasize the need for accessible clinical decision-support tools and clearly defined referral pathways, so that a physician who suspects a metabolic disorder can rapidly confirm or exclude the suspicion and move the patient to specialized care. Such systems effectively externalize part of the rare-disease expertise that individual physicians cannot reasonably accumulate on their own, distributing it across the diagnostic network.
The implications extend beyond Türkiye. Health systems worldwide grapple with the same structural problem: inherited metabolic diseases are collectively common enough that every front-line pediatrician will encounter them, yet individually rare enough that no training program can guarantee meaningful firsthand experience with each disorder. Newborn screening programs have expanded dramatically over recent decades, powered by tandem mass spectrometry and expanding disease panels, and these programs have proven transformative for the subset of conditions they cover. But screening cannot detect every IMD, and infants with inborn errors of metabolism continue to present first to general pediatricians with nonspecific symptoms — poor feeding, lethargy, vomiting, seizures, developmental delay — that mimic far more common illnesses. The diagnostic burden, in these cases, falls on physicians whose formal education may have devoted only a few lecture hours to the entire category of metabolic disease.
The methodological approach of the study also deserves note. Cross-sectional survey designs of this kind capture a snapshot of self-reported knowledge and attitudes rather than direct observation of clinical performance, and the 169 fully completed questionnaires, while sufficient for statistical analysis, represent a fraction of the pediatric workforce. The authors acknowledge these constraints implicitly through their careful framing: the knowledge items measured what physicians could recall in the abstract, and the attitudinal items measured what physicians believed about their own capabilities. The significant statistical associations between perceived training adequacy and knowledge scores, and between follow-up difficulty and lower scores, lend the self-reports credibility and suggest the instrument captured genuine variation rather than random noise.
What emerges is a clear-eyed portrait of a system in which the diagnostic infrastructure for rare disease has outpaced the educational infrastructure. Screening programs, specialized metabolic centers, and molecular diagnostics have advanced enormously, but the human interface between a symptomatic child and the specialist who can help remains a general pediatrician whose training, by their own account, left them unprepared. Closing that gap, the study argues, requires deliberate intervention: case-based curricula that teach the red flags of metabolic disease, supervised clinical rotations in metabolic medicine, decision-support systems embedded in electronic health records, and referral pathways that make the next step obvious when suspicion arises.
For the roughly 80 percent of surveyed pediatricians who struggle to follow diagnosed cases, and the two-thirds who doubt their diagnostic abilities, the study offers both a warning and a reassurance. The warning is that the current model of rare-disease education is not working and that children with treatable metabolic disorders may pay the price in delayed diagnosis. The reassurance is that the problem is tractable — the deficits are specific, measurable, and concentrated in domains that targeted educational and systemic interventions can plausibly improve. The findings, published as an open-access research article, give educators, professional societies, and health system planners a concrete map of where to aim.
Subject of Research: Knowledge, attitudes, and clinical experiences of pediatricians regarding inherited metabolic diseases in Türkiye
Subject of Research: Medicine
Article Title: Knowledge, attitudes, and clinical experiences of pediatricians regarding inherited metabolic diseases: a cross-sectional study
Article References: Köle, M. T., Güven, D., Tehçi, A. K., Yıldız, H., Bedir, S. Y., İbiş, C. T., Döğer, C., & Sarı, E. (2026). Knowledge, attitudes, and clinical experiences of pediatricians regarding inherited metabolic diseases: a cross-sectional study. BMC Pediatrics. https://doi.org/10.1186/s12887-026-07686-6
Image Credits: AI Generated
DOI: 10.1186/s12887-026-07686-6
Keywords: inherited metabolic diseases, pediatricians, newborn screening, knowledge, self-efficacy, cross-sectional study, Türkiye, clinical decision-support, referral pathways, medical education, BMC Pediatrics
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Ophelia Keating. (September 9, 2026). Pediatricians’ knowledge and clinical experience with inherited metabolic diseases surveyed. Scienmag. https://scienmag.com/pediatricians-knowledge-and-clinical-experience-with-inherited-metabolic-diseases-surveyed/
Ophelia Keating. “Pediatricians’ knowledge and clinical experience with inherited metabolic diseases surveyed.” Scienmag, 9 September 2026, https://scienmag.com/pediatricians-knowledge-and-clinical-experience-with-inherited-metabolic-diseases-surveyed/. Accessed 9 September 2026.
Ophelia Keating. “Pediatricians’ knowledge and clinical experience with inherited metabolic diseases surveyed.” Scienmag. September 9, 2026. https://scienmag.com/pediatricians-knowledge-and-clinical-experience-with-inherited-metabolic-diseases-surveyed/
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