Dr Herodes Guzman talks through a striking GSDIa case series where lactic acidosis persisted despite hypoglycaemia correction—prompting fresh thinking about mitochondrial involvement in metabolic crisis.

Listen now: open.spotify.com/episode/2gRr...
#GSDIa #IMD #RareDisease #MetabolicMedicine

New #JIMD guideline out now:
🧬 Tyrosine Hydroxylase Deficiency (THD)

Led by the iNTD network, it sets out how to:
Diagnose via CSF + genetics
Treat with L-dopa/DCI
Plan multidisciplinary care
📘 Consensus from 28 experts & patient reps.
👉 doi.org/10.1002/jimd...
#THD #RareDisease #MetabolicMedicine

New in #JIMD 🔬
“Removal of Toxic Metabolites, Chelation: Manganese Disorders”
From Na₂CaEDTA to novel Mn-specific ligands, this review explores how chemistry can help tackle hypermanganesemia and manganism.
👉 doi.org/10.1002/jimd...
#Manganese #Chelation #RareDisease #MetabolicMedicine

A sweeping, personal 60-year history of inherited metabolic diseases from Jean-Marie Saudubray & Manuel Schiff. Part memoir, part masterclass.

Who shaped the field for you—and who’s shaping it now?

Read it here: doi.org/10.1002/jimd...
#IMD #rarediseases #JIMD #Saudubray #metabolicmedicine

👂 Vestibular symptoms in Gaucher disease?
New study shows it’s not just GD3 — GD1 patients may also be affected.

Paper by Onan et al:
“Audiovestibular Findings in Gaucher Disease Types I and III”
doi.org/10.1002/jimd.70046

#Gaucher #RareDisease #Audiology #MetabolicMedicine

How long does it take to diagnose MLD?
New data show the median delay is over 2 years. Most kids already show significant neuro decline before diagnosis.
doi.org/10.1002/jimd.70049
#MLD #RareDisease #JIMD #MetabolicMedicine