Dr Kaustuv Bhattacharya explains the insights of his team into the diagnosis and management of a cohort of children with McArdle Syndrome and challenges some of the conceptions around this disease.

Diagnosis and management of children with McArdle Syndrome (GSD V) in New South Wales

Louisa Adams, et al

https://doi.org/10.1002/jmd2.12389

Dr Rodrigo Starosta describes the management of a challenging presentation of PIGO-CDG and discusses insights into this rare GPI-anchor disorder.

PIGO-CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerations

Rodrigo Tzovenos Starosta, et al

https://doi.org/10.1002/jmd2.12396

It's a 2-for-1 podcast as Dr Mattias Lissing of the Karolinska Institute joins us to discuss two recent papers looking at cancer risk, comorbidity and mortality in the acute porphyrias.

Risk for incident comorbidities, nonhepatic cancer and mortality in acute hepatic porphyria: A matched cohort study in 1244 individuals

Mattias Lissing, et al

https://doi.org/10.1002/jimd.12583

Porphyrin precursors and risk of primary liver cancer in acute intermittent porphyria: A case–control study of 188 patients

Mattias Lissing, et al

https://doi.org/10.1002/jimd.12676

Dr Markey McNutt of UT South Western describes a patient presenting with post-partum ataxia and confusion and just when you think you know the answer there's an extra mystery at the end.

Read the paper here:

https://doi.org/10.1002/jmd2.12388

Dr Claire Horgan discusses the first year of offering gene therapy to patients with metachromatic leukodystrophy (MLD) in the UK. When given in a timely fashion the impact is incredible but large numbers of children remain ineligible for treatment.

A retrospective cohort study of Libmeldy (atidarsagene autotemcel) for MLD: What we have accomplished and what opportunities lie ahead

Claire Horgan, et al

https://doi.org/10.1002/jmd2.12378

In this podcast, Dr Kristen Skvorak discusses the development and testing of a new oral enzyme for the treatment of Maple Syrup Urine Disease.

Oral enzyme therapy for maple syrup urine disease (MSUD) suppresses plasma leucine levels in intermediate MSUD mice and healthy nonhuman primates

Kristen Skvorak, et al

https://doi.org/10.1002/jimd.12662

Enzyme Replacement Therapy (ERT) has changed the course of several lysosomal storage disorders but regular, intravenous administration is not without its issues. In this latest Shortcast, Dr Paulina Dabrowska-Schlepp describes her group's work to develop subcutaneous ERT for Fabry Disease.

Comparison of efficacy between subcutaneous and intravenous application of moss-aGal in the mouse model of Fabry disease

Paulina Dabrowska-Schlepp, et al

https://doi.org/10.1002/jmd2.12393

Dr Luisa Averdunk of the University Children's Hospital in Düsseldorf discusses the investigation of a 2-year-old presenting with acute episodes of dystonia and symmetrical basal ganglia abnormalities. Will you unravel this metabolic mystery before all is revealed?

See the associated image and read the full report here:

https://onlinelibrary.wiley.com/doi/full/10.1002/jimd.12680

In our latest podcast we welcome Simon Waddington, Professor in Gene Transfer Technology at the EGA Institute for Women's Health. Professor Waddington discusses the development of fetal gene therapy and why it might be desirable to deliver gene therapy to the unborn child.

Fetal gene therapy

Simon N. Waddington, et al

https://doi.org/10.1002/jimd.12659

Dr Oliver Heath describes a new patient with CADDS who developed pancreatic exocrine deficiency and interstitial lung disease.

Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature review

Oliver Heath, et al

https://doi.org/10.1002/jmd2.12390