JIMD Podcasts

Dr Boel Ernerdahl presents her groups observations around the make up of adult patients with neurometabolic disorders at a single centre in Sweden.

Characterization of Adult Patients With Neurometabolic Disorders: A Cross-Sectional Study at a Tertiary Neurology Center in Sweden
Boel Ernerdahl, Ashraf Yahia, Andreas Puschmann
https://doi.org/10.1002/jmd2.70115

One newborn screen. Two very different diagnoses. And treatments that pull in opposite directions.

In this JIMD Reports Shortcast, Dr Anne Kwok from Hong Kong Children’s Hospital presents a newborn with markedly elevated citrulline, where distinguishing citrin deficiency from citrullinaemia type I became critical as initial treatment was followed by rapidly worsening liver failure.

Neonatal Acute Liver Failure due to Citrin Deficiency (NALFCD)
Hoi-Yin Chan, et al
https://doi.org/10.1002/jmd2.70110

Remethylation disorders are clinical chameleons, presenting with neurological, psychiatric, ophthalmological, renal or multisystem disease.

Professor Martina Huemer joins the JIMD Podcast to discuss the revised international guidelines, including when to measure total homocysteine, newborn screening and the move towards high-dose hydroxocobalamin. She also explains why shared treatment protocols are needed to strengthen the evidence behind future recommendations.

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders
Giorgia Olivieri et al.
https://doi.org/10.1002/jimd.70177

A young girl develops progressive neurological symptoms and a biomarker profile pointing strongly towards a particular metabolic disorder. There’s just one problem: the genetic testing is negative.

In this Metabolic Mystery, Dr Ayca Burcu Kahraman follows the clues beyond conventional DNA testing to finally crack the case.

Can you solve it before she does?

Read the paper: https://doi.org/10.1055/a-2903-9323

A 7-year-old boy presents following a suspected seizure, with a history of progressive ataxia and tremor. An MRI offers an important clue but a seemingly reassuring blood result complicates the picture.

In this Metabolic Mystery, Dr Steven Lang follows the clues to uncover a treatable metabolic diagnosis.

Can you solve the case before he does?

Read the paper: https://doi.org/10.1542/pir.2025-007029