Clinical and biochemical footprints of inherited metabolic disorders: XIX. Hypoglycemia.

Alessandro Rossi, Gianni Bocca, Dennis K Bos, Carlos R Ferreira, Nenad Blau, Terry G J Derks

Abstract readReview

In one paragraph

Review in Molecular genetics and metabolism, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

6 authors.

Alessandro RossiDepartment of Pediatrics, Section of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, 9713 GZ Groningen, the Netherlands; Department of Translational Medicine, Section of Pediatrics, University of Naples "Federico II", 80131 Naples, Italy.

Gianni BoccaDepartment of Pediatrics, Section of Endocrinology, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, 9713 GZ Groningen, the Netherlands.

Dennis K BosDepartment of Genetics, University of Groningen, University Medical Center Groningen, 9713 GZ Groningen, the Netherlands.

Carlos R FerreiraEunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.

Nenad BlauDivision of Metabolism, University Children's Hospital, Zürich, Switzerland. Electronic address: nenad.blau@kispi.uzh.ch.

Terry G J DerksDepartment of Pediatrics, Section of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, 9713 GZ Groningen, the Netherlands.

Funding

Skeletal and Metabolic Translational MedicineZIAHD009024 · NICHD · EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT · PI FERREIRA, CARLOS · 2025 to 2025

$2.5M

Intramural NIH HHS ZIA HD009024

6 · The paper itself

Abstract

Hypoglycemia is one of the most common metabolic emergencies in childhood. If not promptly recognized and treated, it can cause irreversible neurological injury. In newborns, infants, and children, inherited metabolic diseases (IMDs) account for a large proportion of persistent or recurrent hypoglycemia, though other genetic and endocrine disorders can also be underlying causes. Timely etiological diagnosis is critical, as many causes are treatable and require specific management to prevent recurrence. We systematically reviewed and updated the list of inherited causes of hypoglycemia and identified 340 disorders, displaying characteristic clinical and biochemical "footprints" that can guide the diagnostic process. Despite the high burden and potential for targeted therapy, underdiagnosis and delayed management remain common. This article represents the nineteenth in a series aimed at creating and maintaining a comprehensive catalogue of clinical and biochemical differential diagnoses for IMDs according to system or symptom involvement.

Indexed as

HypoglycemiaMetabolic DiseasesMetabolism, Inborn ErrorsHumansInfantInfant, NewbornAdrenal insufficiencyCongenital hyperinsulinismCongenital hypopituitarismEndocrineGlucose homeostasisGrowth hormone deficiencyIEMbase

Identifiers

PMID42105432

DOI10.1016/j.ymgme.2026.110138

PMCPMC13353028

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