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

JIMD Shortcast

In a 'short' Shortcast, Dr Julien Baruteau introduces his Report of two infantile-onset cases of remethylation defects and their response to treatment. 

Prolonged respiratory failure responds to conventional therapy in isolated homocysteine remethylation defects
Abigail Whitehouse, et al
https://doi.org/10.1002/jmd2.12375

Shortcast: Prolonged respiratory failure treatment in isolated homocysteine remethylation defects

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

Shortcast: Interstitial lung disease and pancreatic exocrine insufficiency in CADDS

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

Metabolic mysteries: A child with dystonia and MRI changes

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

Shortcast: Comparison of subcutaneous and intravenous moss-aGal in Fabry disease mouse model

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

Shortcast: PIGO-CDG: A case study, phenotypic expansion, lit review, and nosological considerations

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

Metabolic mysteries: Post-partum ataxia and confusion

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

Shortcast: A retrospective cohort study of Libmeldy (atidarsagene autotemcel) for MLD

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

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

Dr Will Heath describes insights form screening data derived from 19 patients enrolled in a phase 1 study in late-onset Pompe disease.

Screening data from 19 patients with late-onset Pompe disease for a phase I clinical trial of AAV8 vector-mediated gene therapy
William B. Hannah, et al
https://doi.org/10.1002/jmd2.12391

Shortcast: Screening data for 19 patients with late-onset Pompe disease for a phase I clinical trial

In the latest Shortcast, Jared J. Druss and Professors Nancy Potter and Judy Fridovich-Keil discuss grip strength in galactosemia (and how competitive boys can bias study results).

Grip strength in patients with galactosemia and in a galactose-1-phosphate uridylyltransferase (GALT)-null rat model
Jared J. Druss, et al
https://doi.org/10.1002/jimd.12684

Shortcast: Grip strength in patients with galactosemia and in a GALT-null rat model

Blood spots are integral to disease monitoring in PKU, however, there are concerns regarding correlation between capillary and plasma levels and discrepancies arising based on sampling quality and storage. Dr Rachel Carling explains how a volumetric blood collection device presents a cost effective way to improve consistency and reduce rejected samples. 

Investigation of the relationship between phenylalanine in venous plasma and capillary blood using volumetric blood collection devices
Rachel S. Carling, et al
https://doi.org/10.1002/jmd2.12398

Shortcast: Relationship between plasma & capillary blood Phe using volumetric collection devices

Dr Sander Houten discusses a child with hyperlysinemia diagnosed via newborn screening and whether this reflects a disease or just a metabolic perturbation. This distinction is relevant as inducing this state may be a treatment option in GA1 or pyridoxine dependent epilepsy. 

A case of hyperlysinemia identified by urine newborn screening
Mehdi Yeganeh, et al
https://doi.org/10.1002/jmd2.12399

Shortcast: A case of hyperlysinemia identified by urine newborn screening

Professor Jayesh Sheth shares 20 years of insights on diagnosing adult onset lysosomal storage disorders at a tertiary genetic centre in India.

Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature
Jayesh Sheth, et al
https://doi.org/10.1002/jmd2.12407

Shortcast: Lysosomal storage disorders identified in adult population from India

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

Shelby Mills on behalf of the UTH Medical Genetics Team, invites you to consider three mystery cases serving to hi-light some common, and some less common, presenting features for a treatable inherited metabolic disease.

Arginase deficiency masked by cerebral palsy and coagulopathy—Three varied presentations of Latin American origin
Shelby L. Mills, et al
https://doi.org/10.1002/jmd2.12397

Metabolic mysteries: Three children with neurological symptoms and coagulopathy

Merel Hermans describes her work reviewing neuropsychological stability in adults with classical galactosemia.

Neuropsychological stability in classical galactosemia: A pilot study in 10 adult patients
Merel E. Hermans, et al
https://doi.org/10.1002/jmd2.12410

Shortcast: Neuropsychological stability in classical galactosemia: A pilot study in 10 adults

Dr Hiroki Hanafusa presents the unusual case of a woman who was initially diagnosed with Fanconi Syndrome and later found to have Lysinuric Protein Intolerance.

Lysinuric protein intolerance exhibiting renal tubular acidosis/Fanconi syndrome in a Japanese woman
Hiroaki Hanafusa, et al
https://doi.org/10.1002/jmd2.12392

Shortcast: Lysinuric protein intolerance exhibiting RTA/Fanconi syndrome in a Japanese woman

Dr Maren Thiel, Chair of the German speaking self-help group for fatty oxidation disorders, presents work completed with the Freiburg metabolic team looking at psychosocial issues and coping strategies in families affected by LC-FAOD.

Psychosocial issues and coping strategies in families affected by long-chain fatty acid oxidation disorders
Maren Thiel, et al
https://doi.org/10.1002/jmd2.12402

Shortcast: Psychosocial issues and coping strategies in families affected by long-chain FAOD

Mel McSweeney and Dr Mildrid Yeo briefly outline the approach to urea cycle disorder management and the Gt Ormond Street experience using glycerol phenylbutyrate as a nitrogen scavenger. 

Clinical experience with glycerol phenylbutyrate in 20 patients with urea cycle disorders at a UK paediatric centre
Mildrid Yeo, et al
https://doi.org/10.1002/jmd2.12386

Shortcast: Clinical experience with glycerol phenylbutyrate in 20 patients with UCDs

Dr Gustavo Spolador discusses the paucity of data around palliative care in Inherited Metabolic Disease and some of his own observations in a Brazilian quaternary hospital.

Pediatric palliative care for metabolic diseases: 20-year epidemiological survey of outpatients at a Brazilian quaternary hospital
Gustavo Marquezani Spolador, et al
https://doi.org/10.1002/jmd2.12417

Shortcast: Pediatric palliative care for IMD: 20-year survey of outpatients at a Brazilian hospital

A fortnightly podcast from the Journal of Inherited Metabolic Disease, where authors discuss recent publications from the journal. The podcast is intended for specialists and interested clinicians but is also intended to increase the accessibility of this work for patients and families. Supported by Wiley.

JIMD Shortcast

JIMD Podcasts