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

Dr Estela Rubio-Gozalbo and Dr Bernadette Jansma explain why brains oscillate, what that has to do with classical galactosemia and how a non-invasive intervention could help with language difficulties. 

Altered neural oscillations in classical galactosaemia during sentence production
Sara Mazzini, et al
https://doi.org/10.1002/jimd.12740

Impact of theta transcranial alternating current stimulation on language production in adult classic galactosemia patients
Britt Derks, et al
https://doi.org/10.1002/jimd.12742

Speech & neural oscillation in classic galactosemia

Marshall Summar explains why common polymorphisms and basic physiology mean that L-citrulline may have a role in sickle cell disease, bronchopulmonary dysplasia and even asthma.

Potential therapeutic uses of L-citrulline beyond genetic urea cycle disorders
Marshall Summar
https://doi.org/10.1002/jimd.12810

Citrulline: beyond the urea cycle

Dr Jessica Gold discusses observations around executive function in early treated MSUD patients and how this impacts on outcomes around transition to adulthood. 

Executive and adaptive function impacts long-term outcomes for adults with maple syrup urine disease
Jessica I. Gold, et al
https://doi.org/10.1002/jimd.12827


Transition & executive function in MSUD

It's an Arg1 extravaganza as Reena Sharma, Sara Olofsson, Karolina Stepien and Alison Woodall discuss three separate papers looking at the Salford Royal experience of a cohort of adults with Arginase 1 deficiency and the wider health and societal cost of the condition. 

Retrospective analysis of arginase 1 deficiency progression in adults over 5 years at a single metabolic centre
Reena Sharma et al
https://doi.org/10.1002/jmd2.12450

Disease burden among patients with Arginase 1 deficiency and their caregivers: A multinational, cross-sectional survey
Sara Olofsson et al
https://doi.org/10.1002/jmd2.12456

Societal costs and quality of life associated with arginase 1 deficiency in a European setting – a multinational, cross-sectional survey
Sara Olofsson et al
https://doi.org/10.1080/13696998.2024.2400856

Exploring the disease burden in Arginase 1 deficiency

Michel Tchan and Mirjam Langeveld join the podcast to look at changes to adult IMD services over the last decade and consider the challenge to develop services to meet the needs of growing patient numbers over the next 10 years.

The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: 10 Years Later, Another Report From the SSIEM Adult Metabolic Physicians Group
Michel Tchan, et al
https://doi.org/10.1002/jimd.70005

IEMs in Adult Metabolic Centres: 10 Years Later

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)

Treatment is available for most intoxication-type disorders, but would you know what to do in an emergency. In this podcast, Dr Dexter Tarr discusses the acute management when these conditions cause encephalopathy, seizures, stroke-like episodes, thromboses, liver failure, cardiac failure, arrhythmias and rhabdomyolysis. 

Emergency Management of Intoxication-Type Inherited Metabolic Disorders
J. Dexter Tarr, Andrew A. M. Morris
https://doi.org/10.1002/jimd.70007

Managing Metabolic Emergencies - Intoxication type disorders

Dr Travis Johnson and Dr Sarah Mele join the podcast to explain why flies make great models for Short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) and how their work is shedding light on different treatment modalities.

Valine Restriction Extends Survival in a Drosophila Model of Short-Chain Enoyl-CoA Hydratase 1 (ECHS1) Deficiency
Sarah Mele, et al
https://doi.org/10.1002/jimd.12840

ECHS1 deficiency and valine restriction

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

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.

Popular tracks tagged #inherited metabolic disease