CDG discovery is outpacing treatment.
Lipiński & Jaeken review new disorders, advances in diagnosis and emerging therapies.
Normal transferrin does not exclude CDG and most CDG still lack disease-modifying treatment.
@jimd-editors.bsky.social
@jimd-editors.bsky.socialCDG discovery is outpacing treatment.
Lipiński & Jaeken review new disorders, advances in diagnosis and emerging therapies.
Normal transferrin does not exclude CDG and most CDG still lack disease-modifying treatment.
@jimd-editors.bsky.social📢 New in #JIMD
The first international consensus guidelines for pyruvate dehydrogenase complex deficiency (PDCD) bring together 199 recommendations covering diagnosis, treatment, ketogenic diet, emergency care, surveillance & transition.
@jimd-editors.bsky.socialNew in JIMD: international LC-FAOD guidance, from diagnosis to lifelong care.
Individualised nutrition, illness plans, supported exercise and monitoring, drawing on evidence and expert consensus.
@jimd-editors.bsky.social🧬 BCKDK deficiency turns BCAA metabolism on its head.
Loss of the kinase leaves BCKDH permanently active → BCAA depletion, not accumulation.
A new #JIMD review looks at treatment, the importance of early diagnosis & why newborn screening may deserve consideration.
@jimd-editors.bsky.social🧬 Early results for GLM101 in #PMM2CDG:
3 adults treated for 24 weeks showed a mean 17.7-point improvement in ICARS, with improvement across all ataxia domains and no serious adverse events.
Small, open-label study — but an encouraging signal.
doi.org/10.1002/jimd...
#JIMD #CDG
@jimd-editors.bsky.social🧬 Could genome editing transform treatment for glycogen storage diseases?
A new #JIMD review from Troy von Beck, Raymond Wang & Dwight Koeberl looks at progress from preclinical editing towards clinical translation and the challenges still ahead.
doi.org/10.1002/jimd...
