Investigating the Effects of Glycan Extension Deficiency in ALG3-CDG

New research from FCDGC: onlinelibrary.wiley.com/doi/10.1002/ji…

CAVA deficiency represents an unusual differential for hyperammonemia and provisional reports suggest that it this may respond to carglumic acid.

In this report, Al-Thihli et al share details on a series with a founder mutation in the CA5A gene.
onlinelibrary.wiley.com/doi/full/10.10…

Vitamin responsive IMDs are always of interest. In this Report, Al-Amrani et al discuss the response of a patient with NAXE deficiency to Niacin therapy including the use of COX-inhibition to treat rash side effects.

doi.org/10.1002/jmd2.1…

#niacin #NAXE

Final day for early bird registration - sign up now to save up to £60 on registration for the 2024 BIMDG meeting.

bimdgconference.org/registration
#BIMDG2024

It's the last day for Early Bird registration for the #BIMDG2024 annual meeting. It's a fantastic line-up covering the length and breadth of IMD.

Save up to £60 on registration with Early Bird prices. bimdgconference.org/registration
#inheritedmetabolicdisease

Final Day for Early Bird Registration for #BIMDG2024 , day 1 looking to feature a morning dedicated to general paediatricians who link with IMD services.

A new treatment, which could make a huge difference to patients with a rare disorder, has undergone a promising trial at Queen Elizabeth Hospital Birmingham. The experimental drug has been trialled on patients with propionic acidaemia.
For more info:
orlo.uk/VbLmD

New review looking at Human genetic defects of sphingolipid synthesis. Not a topic we hi-light on a regular basis so great to feature this discussion.

Patricia Dubot, et al

onlinelibrary.wiley.com/doi/full/10.10…

#sphingolipids

To extend the benefits of pediatric advanced care planning to families of children with rare disorders, @neurometabolism & authors of this #Pediatrics study pilot tested an adaptation of 2 evidence-based interventions to meet these palliative care needs: bit.ly/4drRIe8

So proud to be a part of this team and grateful for our Children's National Hospital 🏥 families who participated. We always strive to meet families where they are and support them on their #RareDisease journey. This work will help us serve them better.

Camino a #Santiago a la IX Reunión Galega y VI Reunión Hispano Lusa sobre “Nuevos Retos en los Errores Innatos del Metabolismo”

#ActualizacionEIM
#ECM
AECOM, Enfermedades Raras Metabólicas
AECOM&Sociedad
The Journal of Inherited Metabolic Disease

If you wanna be featured in ECR voices or know other young metabolomics enthusists please let us know and spread the word! This is a great opportunity to showcase your work and get to know other ECRs in metabolomics! EMN Metabolomics Society Metabolomics Society #metsoc

My favourite ever explanations of next generation sequencing (NGS) is now available on YouTube 🧬
youtube.com/watch?v=x_Xs5N…

One to bookmark for teaching🔖
Many thanks Matthew Wakeling

#Genomics #Genetics #Bioinformatics

Short read WGS explained.

The interfaced between CBS and porphyria, explored in this new publication in JIMD Reports.

Elevated homocysteine is negatively correlated with plasma cystathionine β-synthase activity in givosiran-treated patients
Mark Keibler, et al
doi.org/10.1002/jmd2.1…

Check out this podcast to find out why 'Everyone's talking about empagliflozin'.

On soundcloud: soundcloud.com/user-109006120…

Apple: podcasts.apple.com/gb/podcast/eve…, or wherever you get your podcasts.

#GSD1b #empagliflozin #repurposing #inheritedmetabolicdisease #sciencecommunication

Delighted to announce our recent publication in Proteomics Wiley on an autosomal recessive disorder, ALG1-Congenital Disorder Glycosylation, led by Rohit Budhraja from our team Rohit budhraja #glycotime #teammassspec FCDGC

New in the journal:
Natural history of multiple sulfatase deficiency: retrospective phenotyping and functional variant analysis to characterize an ultra‐rare disease
Laura A. Adang et al Rebecca Ahrens-Nicklas
Accompanying a recent piece from a month earlier
doi.org/10.1002/jimd.1…