U01.01.107 Disorders of galactose metabolism A specialized review of U01.01.107 Galactose Metabolism Disorders. Learn how the body processes milk sugar, why a deficiency in GALT leads to liver failure and mental retardation, and the importance of removing lactose from the diet immediately upon diagnosis.

🥛 Milk Sugar Malfunctions: Mastering Galactose Metabolism Disorders! 🥛
#USMLEStep1 #MedEd #Biochemistry #Metabolism #Galactosemia #Pediatrics #Step1Prep #HighYield #MedSchool #Genetics #Cataracts #Neonatology #FutureDoctor #StudyGram #MedTwitter

Have you heard of Galactosemia?
#Galactosemia is caused by a genetic mutation that affects how galactose is broken down, which leads to toxic buildup that causes liver damage, sepsis, and feeding issues in newborns.
The main treatment: lifelong elimination of lactose/galactose.
#raredisease

¿Conocías la galactosemia?
#CribajeNeonatal #DiagnósticoPrecoz #InvestigaciónYa #Galactosemia #LactandoEnDiverso

Without FDA flexibility for rare diseases our daughter’s future is at risk Explore FDA flexibility in medical care as a mother shares her daughter's inspiring journey through health challenges.

For instance:
#Galactosemia and #Govorestat. We are desperate!

Or #PDCD. The kid in this article should have been dead by the age of four, got a promising new medication, is now six, and will now be denied the medication? I am furious on behalf of them. 😡
rarerevolutionmagazine.com/without-fda-...

Is this knowledge useful for #galactosemia or #fructosemia researchers? We have a lot of other digestive enzymes available for consumers, but these two inborn errors of metabolism are very important to adress.
I know about both Jaguar and Emory, but it would be great with help for grownups as well.

Please contribute with more #, I am only tagging a few that are close to me.
#RareDiseases
#SpecialNeeds
#SpecialEducation
#Galactosemia
#DownSyndrome
#Autism
#ADHD
#PDA
#CerebralPalsy
#WheelChair
#Accessibility
#WolframSyndrome

🔹 Bluesky Post (shorter, to fit character limits)
New JIMD Podcast 🎙️ Nicole Smith, Olivia Garrett & Judy Fridovich-Keil discuss patterns of long-term outcomes in classic galactosemia, why complications vary, and why they cluster.
🎧 Listen: soundcloud.com/user-1090061...

#Galactosemia #RareDisease

Did you know? Children with #Galactosemia have a dramatically higher risk of #ChildhoodApraxiaOfSpeech (#CAS)—~24% meet diagnostic criteria, ~180x higher than the general population (Shriberg et al., 2011)! Early recognition is key for targeted therapy. #SLT #SpeechTherapy

Ultra Rare Start Up — Rare and Relentless Ultra Rare Disease Start Up

"In ultra-rare disease, there aren’t many true experts. Most of the time, the people who know the most—and care the most—are the ones living it: parents, patients, caregivers. Your story matters. Your truth matters."
#Galactosemia
#RareDiseases

www.undergroundrareroad.com/blog-2-1/sta...

Classic galactosemia meets cell therapy 🧬
This GALT-null rat model shows how bone marrow transplantation could one day aid enzyme restoration—especially in the brain and gonads.
Still early days, but intriguing signals.

🔗 doi.org/10.1002/jmd2...

#IMD #Galactosemia #RareDisease #MetabolicResearch

The Leloir pathway was described over 7 decades ago, there are significant shortcomings in the current approach to Galactosemia management.

This new article explores possible future therapies:

👉 doi.org/10.1002/jimd...

#galactosemia

Wait for galactosemia therapy goes on after FDA shuns Applied Therapeutics’ govorestat - Pharmaceutical Technology The US Food and Drug Administration has declined to approve Applied Therapeutics’ govorestat for classic galactosemia.

I am totally gutted.
😭😭😭
#Galactosemia patients still have to wait for #Govorestat/ #AT-007

www.pharmaceutical-technology.com/news/galacto...

We can no longer trust that other countries mirroring NIH will lead to best practice if this man gets the chair.
I am so tired of fighting for "my" diseases and disorders, two of which are just about to get their first medications out.🤯
#Galactosemia
#Govorestat
#WolframSyndrome
#ALS
#AMX0035

Research from our dept on #genetherapy for #galactosemia is one of Journal of Inherited Metabolic Disease's top 10 most-cited papers #TopCitedArticle -- senior author Judy Fridovich-Keil is world expert on galactosemia #genesky 🧬onlinelibrary.wiley.com/doi/full/10.1002/jimd.12...

Long-term complications in classic galactosemia are not progressive Classic galactosemia (CG) is a potentially lethal genetic disorder that results from profound deficiency of galactose-1-P uridylyltransferase. Despite…

New from our researchers led by J. Fridovich-Keil: Long-term complications in classic #galactosemia are not progressive - authors analyzed Vineland scores for >100 cases: gaining milestones, but at slower pace than controls www.sciencedirect.com/science/arti...