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

JIMD Shortcast

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

Alexandre Nguyen and Manuel Schiff share the story of two siblings with severe haemolytic anaemia developing in previously well controlled methionine synthase reductase deficiency.

Late-onset refractory hemolytic anemia in siblings treated for methionine synthase reductase deficiency: A rare complication possibly prevented by hydroxocobalamin dose escalation?
Alexandre Nguyen, et al
https://doi.org/10.1002/jmd2.12422

Shortcast: Late-onset refractory hemolytic anemia in siblings treated for MTRR deficiency

In the latest shortcast, Inez Bosnyak describes a case of ALG1-CDG presenting without an abnormal isoelectric focusing pattern. 

Normal transferrin glycosylation does not rule out severe ALG1 deficiency
Inez Bosnyak, et al
https://doi.org/10.1002/jmd2.12415

Shortcast: Normal transferrin glycosylation does not rule out severe ALG1 deficiency

Dr Tom Hartl discusses his group's work with a mouse model that knocks out both GALT and GALK and the insights that this provides into classic galactosemia.

Galactokinase 1 is the source of elevated galactose-1-phosphate and cerebrosides are modestly reduced in a mouse model of classic galactosemia
Linley Mangini, et al
https://doi.org/10.1002/jmd2.12438

Shortcast: Galactokinase 1 is the source of elevated gal-1-phosphate in a galactosemia mouse model

Dr Annet Bosch describes three cases where young adults developed worsening neurological symptoms after a change in diet. Initially confused with Guillan-Barré Syndrome, this treatable condition may be hard to diagnose but devastating to miss. 

Find full details here: https://doi.org/10.1002/jmd2.12427

Metabolic mysteries: Progressive neurological symptoms after a change in diet

Dr Roman Trepp attempts to answer the question, Do early-treated adults with phenylketonuria sense high phenylalanine levels?

Do early-treated adults with phenylketonuria sense high phenylalanine levels?
Laura Hauri, Raphaela Muri, Regula Everts, Roman Trepp
https://doi.org/10.1002/jmd2.12446

Shortcast: Do early-treated adults with phenylketonuria sense high phenylalanine levels?

Callie Ferguson discusses her group's care for a young woman with FBPase deficiency during pregnancy and beyond. 

Metabolic management of a successful pregnancy and postpartum complications in fructose-1,6-bisphosphatase deficiency
Callie Ferguson, Anita Madison, Ada Hamosh, Celide Koerner
https://doi.org/10.1002/jmd2.12453

Shortcast: Metabolic management of a successful pregnancy in FBPase deficiency

In this Shortcast Antonio Ochoa-Ferraro and Dr Charlotte Dawson share their experience using the medication Volanesorsen with two pregnant women diagnosed with familial chylomicronemia syndrome.

Two successful pregnancies in patients taking Volanesorsen for familial chylomicronemia syndrome
Subadra Wanninayake, et al
https://doi.org/10.1002/jmd2.12435

Shortcast: Two successful pregnancies in patients taking Volanesorsen for FCS

Dr Thomas Cassini explains how the Undiagnosed Diseases Network group used advanced sequencing techniques to clarify the genotype in a child with an unusual phenotype for mitochondrial trifunctional protein deficiency.

Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing
Thomas Cassini, et al
https://doi.org/10.1002/jmd2.12459

Shortcast: TFP deficiency caused by a deep intronic deletion leading to aberrant splicing

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

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.