JIMD Podcasts

Inherited Metabolic Diseases may have both a direct and indirect on dentition resulting on a number of challenges for parents, carers, clinicians and dentists when it comes to managing this. Dr Lorna Hirst and Dr Anupam Chakrapani join the podcast to explain what some of these issues are and why dentists should not be intimidated by IMD patients.

Inborn errors of metabolism and their impact in paediatric dentistry

Lorna Hirst, Anupam Chakrapani, Suhaym Mubeen

https://doi.org/10.1002/jimd.12493

Dr David Olsson discusses the Swedish experience following the introduction of newborn screening for VLCAD deficiency.

Very long-chain acyl-CoA dehydrogenase deficiency in a Swedish cohort: Clinical symptoms, newborn screening, enzyme activity, and genetics

David Olsson, et al

https://doi.org/10.1002/jmd2.12268

Ashley Hertzog discusses the identification of an unexpected promoter variant as a cause of late-onset OTC deficiency.

A serendipitous journey to a promoter variant: The c.-106C>A variant and its role in late-onset ornithine transcarbamylase deficiency

Ashley Hertzog, et al

https://doi.org/10.1002/jmd2.12289

Dr Rebecca Levy of the Lucile Packard Children's Hospital in Stanford, joins the podcast to discuss her recent work looking at epilepsy in NGLY1 deficiency.

Delineating the epilepsy phenotype of NGLY1 deficiency

Rebecca J. Levy, et al

https://doi.org/10.1002/jimd.12494

Dr Ronen Spiegel and Dr Bernd Schwahn join the podcast to discuss their natural history study in Molybdenum cofactor deficiency and the promise of treatment with cPMP for individuals with MoCD-A.

Molybdenum cofactor deficiency: A natural history

Ronen Spiegel, et al

https://doi.org/10.1002/jimd.12488

Dr Maria Fuller explains the clinical utility of the biomarker Chondrotin sulfate disaccharide in the diagnosis of MPSIVA.

Chondroitin sulfate disaccharide is a specific and sensitive biomarker for mucopolysaccharidosis type IVA

Sharon J. Chin, et al

https://doi.org/10.1002/jmd2.12132

Dr Kristin Ørstavik explains her team's observations of three patients with a novel mutation in the HADHB gene leading to a mild form of FTP deficiency.

Novel mutations in the HADHB gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiency

Kristin Ørstavik, et al

https://doi.org/10.1002/jmd2.12276

Professor Ranganath returns to the podcast and is joined by Dr Nick Sireau to discuss the SONIA 2 study, getting the Nitisinone dose right and how we should manage alkaptonuria in children.

Comparing nitisinone 2 mg and 10 mg in the treatment of alkaptonuria—An approach using statistical modelling

Lakshminarayan R. Ranganath, et al

https://doi.org/10.1002/jmd2.12261

Effects of a protein-restricted diet on body weight and serum tyrosine concentrations in patients with alkaptonuria

Birgitta Olsson, et al

https://doi.org/10.1002/jmd2.12255

Professor Judy Fridovich-Keil discusses her work looking at acute and developmental outcomes in infants and young children with Duarte galactosemia.

Acute and early developmental outcomes of children with Duarte galactosemia

Judith L. Fridovich-Keil, et al

https://doi.org/10.1002/jmd2.12267

Dr George Diaz and Dr Spyros Batzios join the podcast to discuss a slight more unusual UCD, Arginase deficiency. They discuss the clinical features of the condition, the current management and a promising new therapy.

Clinical status, biochemical profile and management of a single cohort of patients with arginase deficiency

Nandaki Keshavan, et al

https://doi.org/10.1002/jmd2.12266

Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency

George A. Diaz, et al

https://doi.org/10.1002/jimd.12343