A collection of short podcasts featuring papers from the journal JIMD Reports as explained by their authors.

JIMD Shortcast

A collection of short case reports intended to take you through an evolving patient presentation, allowing you to consider the differentials as you go. Based on published case reports, these stories are intended to provide useful insights into rare disease presentations.

Metabolic mysteries

Dr Malak Alghamdi unravels the mystery of a 32-year-old woman with a history of recurrent miscarriage and early neonatal death with congenital anomalies. 

Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman
Malak Ali Alghamdi, et al 
https://doi.org/10.1002/jmd2.12384

Metabolic mysteries: Recurrent miscarriage and congenital anomalies

In this Metabolic Mystery, Dr Eamon McCarron unravels an unexpected diagnosis in a 55-year-man with a 2-year history of dragging his legs, poor balance, and paresthesia along the outer aspect of his right thigh. He underwent various assessments and investigations over the next 3 years before a diagnosis was made. 

https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.a.64031#

Metabolic mysteries: New weakness, poor balance and paresthesia at 55 years of age

In this Shortcast, Dr Aya Amer presents the New Zealand experience of using ketone (D,L-3-HB) supplementation in 12 patients (aged 10-50 years) with GLUT1DS.

D,L-3-hydroxybutyrate in the treatment of glucose transporter 1 deficiency syndrome (Glut1DS)
Aya Amer, et al
https://doi.org/10.1002/jmd2.12461

Shortcast: D,L-3-hydroxybutyrate in the treatment of glucose transporter 1 deficiency syndrome (Glut1DS)


Lucas Agnoletto and Dr Rebecca Halligan report work looking at sleep quality in children with hepatic GSDs, considering whether sleep is impacted by poor glycemic control or our efforts to improve this through overnight feeding.

Sleep quality in children with hepatic glycogen storage diseases, a prospective observational pilot study
Lucas Agnoletto, et al
https://doi.org/10.1002/jmd2.12462

Shortcast: Sleep quality in children with hepatic GSDs, a prospective observational pilot study

Dr Mrinmayee Takle and Dr Kuntal Sen discuss the challenging dilemma of a child, presenting from infancy with recurrent seizures and three different (wrong) diagnoses including opsoclonus-myoclonus-ataxia syndrome.

Read the article: https://doi.org/10.1002/cns3.20098
Mrinmayee Takle, Dhwani Sahjwani, Diana Bharucha-Goebel, Tyler Rapp, Cecilia Bouska, Alexandra Kornbluh, Kuntal Sen

Metabolic mysteries: A child with episodic seizures and multiple diagnoses

Dr JP Stevens shares the mystery of a 5-year-old boy presenting with severe gastrointestinal bleeding and cholestasis. Inpatient investigation reveals gallbladder polyps and, on assessment after recovery he is found to have signs of developmental delay. Can you recognise the clues in the presentation?

https://onlinelibrary.wiley.com/doi/10.1097/PG9.0000000000000122

Metabolic mysteries: GI bleeding, gallbladder polyps and evolving developmental delay

A newborn with no symptoms, an unexpected X-ray finding, and a puzzle that points in many possible directions. Follow Dr. Tolulope Tolufase as he unpacks a neonatal case where incidental adrenal calcifications conceal a far deeper mystery.

Read the full report here: https://doi.org/10.1136/bcr-2025-265278

Metabolic mysteries: Incidental adrenal calcifications in a neonate

Marya Sabir shares new insights into the utility of leukocyte sialic acid levels as a diagnostic and monitoring tool in free sialic acid storage disorder.

Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage Disorder
Marya S. Sabir, et al
https://doi.org/10.1002/jmd2.70029

Shortcast: Investigating the utility of  leukocyte sialic acid measurements in Lysosomal FSASD

Shortcast: Clinical and Developmental Outcomes after 50 Years of Galactosaemia NBS in Ireland

Dr Samuel Mackenzie discusses the perplexing presentation of a 61-year-old man with rhabdomyolysis and a prolonged QT interval. Further exploration reveals a lifetime of episodic fatigue with illnesses.

https://doi.org/10.1016/j.ymgmr.2025.101241

Metabolic mysteries: A 61-year-old with rhabdomyolysis and lifelong episodic fatigue

JIMD Podcasts is home to the Journal of Inherited Metabolic Disease podcast and the JIMD Shortcast. We're also proud to showcase Metabolic Mysteries and the new Footprints in IMD podcast.