poconnorDec 12

🎁 Please share with patients, clinicians, and anyone who might be catering for someone on a Low-Protein diet this Christmas

πŸ’‘ Tips and links to help with a low protein Christmas or Thanksgiving. I’ve included menu suggestions & recipes, but let’s start with making the festive season friendlier to those on restricted diets.

Merry Christmas πŸŽ„

#PKU #LowProtein #LivingWithPKU #RareDiseas #MetabolicDisorder

https://www.pigpen.page/pku-at-christmas/

Low protein recipes for a PKU Christmas or Thanksgiving

Tips and links to help with a low protein Christmas or Thanksgiving. I’ve included PKU and low protein menu suggestions & recipes.

PigPen | Pauline O'Connor
mymedschoolNov 5

Understand abetalipoproteinemia and its impact on lipid metabolism. #Biochemistry #USMLE #MetabolicDisorder #MedicalEducation #LipidTransport

https://mymedschool.org/portfolio/u01-01-127-abetalipoproteinemia/?utm_source=mastodon&utm_medium=jetpack_social

Abetalipoproteinemia in Infants: Recognizing Defective Microsomal Transfer Protein & Key Clinical Features

Learn to identify abetalipoproteinemia in infants with failure to thrive, steatorrhea, hypotonia, retinitis pigmentosa, and acanthocytosis. Understand the role of microsomal transfer protein defects for accurate diagnosis and USMLE Step 1 preparation.

mymedschool.org
poconnorOct 12

A great NSPKU conference in Cardiff yesterday. Lovely to see so many new faces, a reminder to head out beyond the usual places.

Lots of updates, new products and research coming. Just organising my thoughts and will report in the blog soon!

#PKU #Livingwithpku #raredisease #MetabolicDisorder

poconnorJun 16, 2025

I wish more people knew about the use of food restrictions as a medical treatment.

Many see the word 'diet' or food restrictions as a lifestyle choice, to be ignored or dismissed.

In truth, many medical conditions are treated through the use of food restrictions.

You never know what someone else is dealing with, but you can choose how you react to their requests.

What do you wish people knew more about?

#LowProtein #PKU #Phenylketonuria #RareDisease #MetabolicDisorder #LivingwithPKU

Hacker NewsMar 31, 2025

Fish odor syndrome – A rare metabolic condition that makes sweat smell like fish

https://www.livescience.com/health/viruses-infections-disease/fish-odor-syndrome-a-rare-metabolic-condition-that-makes-sweat-smell-like-rotten-fish

#HackerNews #FishOdorSyndrome #RareCondition #MetabolicDisorder #HealthAwareness #SweatOdor

'Fish odor syndrome': A rare metabolic condition that makes sweat smell like rotten fish

Patients with trimethylaminuria, or "fish odor syndrome," make too much of a chemical with a strong fishy smell.

Live Science
Alex ChaffeeMar 14, 2023
Listening to an NPR #1A show on #Ozempic #semaglutide and feel like posting that I tried it for a few months over the winter. **It worked!** It suppressed my appetite *and* reduced the glycemic impact of food I did eat; I lost 10 pounds easily and felt my "#MetabolicDisorder" (aka #PreDiabetes) was under control. Unfortunately even after an initial nausea ebbed, I was still feeling faint and/or nausea off and on, and I decided to put it on hold for now until I can establish a snacking schedule.