Adult inherited metabolic disorders

Patients living with inherited metabolic disorders can face numerous challenges. Firstly, as many of the conditions are rare, these people can experience significant diagnostic delay due to unfamiliarity among clinicians. Secondly, this rarity can lead to their usual treating clinicians being uncertain about how best to manage the patients they are caring for. Additionally, there can be feelings of isolation as these patients live with a condition that no one else around them seems to understand.

Many of these disorders rely heavily on data from laboratory testing for diagnosis and management. With the issue of general lack of familiarity among many clinicians, it is imperative that the laboratory provide clarity for the clinicians and for the patients. Recognising the central role the laboratory plays, robust processes that take into account the individual idiosyncrasies of the disorders are needed. These may include particular knowledge of the pre-analytical issues that may impact the analytes in question, such as the light-sensitive nature of many of the intermediates of porphyrin metabolism, or the difficulty of measuring tocopherol in patients with very low circulating concentrations of lipoproteins.

Patient management also requires a good grasp of the specifics of the metabolic abnormalities at play and how these interact with other factors in the patients’ lives. We are delighted to present this special series of the Journal of Laboratory and Precision Medicine on Adult Inherited Disorders, which has been prepared by physicians who care for persons living with these conditions. In these articles, they give us insights into both the intricacies of diagnosis and monitoring using laboratory and other data, and some guidance on the management of a select few of these conditions.

Yousif et al. give the reader a useful guide on when to suspect a monogenic form of diabetes mellitus, as opposed to the more common type 1 or type 2. The pathophysiology and diagnostic criteria are described and specific management pitfalls are highlighted.

Schulenburg-Brand and colleagues describe the diagnostic odyssey and management of patients living with the different porphyrias.

There is a review of the diagnosis and monitoring of patients living with Fabry disease by Wanninayake et al., with particular emphasis on novel biomarkers and how they can be useful for prognostication and for deciding whether to start systemic treatment.

Minic-Novcic has included a great review on the management of patients living with homocystinuria.

We have co-authored two papers in this series with our colleague Charlotte Dawson. The first is a mini review on the specific difficulties faced in assessing the vitamin E status of patients living with some forms of familial hypobetalipoproteinaemia. The second illustrates the current management strategies for patients living with familial chylomicronaemia as well as treatments currently being trialled for this group of patients.

This diverse set of conditions is only a small subset of the group traditionally viewed as inherited metabolic disorders. All of them can pose significant diagnostic and management difficulties and specialist knowledge is often needed. We are very fortunate to have had these various experts contribute to this special series and we hope that the reader enjoys the work presented.

Acknowledgments

None.

Footnote

Provenance and Peer Review: This article was commissioned by the editorial office, Journal of Laboratory and Precision Medicine for the series “Adult Inherited Metabolic Disorders”. The article did not undergo external peer review.

Funding: None.

Conflicts of Interest: Both authors have completed the ICMJE uniform disclosure form (available at https://jlpm.amegroups.com/article/view/10.21037/jlpm-2026-0048/coif). The series “Adult Inherited Metabolic Disorders” was commissioned by the editorial office without any funding or sponsorship. Both authors served as the unpaid Guest Editors of the series. The authors have no other conflicts of interest to declare.

Ethical Statement: The authors are accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

Open Access Statement: This is an Open Access article distributed in accordance with the Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License (CC BY-NC-ND 4.0), which permits the non-commercial replication and distribution of the article with the strict proviso that no changes or edits are made and the original work is properly cited (including links to both the formal publication through the relevant DOI and the license). See: https://creativecommons.org/licenses/by-nc-nd/4.0/.

Nathan Lorde

Amro Maarouf