Today, for #NationalVolunteerMonth , we are sharing a story from Shannon, physical therapist and volunteer running coach for NORD #Running4Rare and aunt to a nephew with #Phenylketonuria ( #PKU ).

Read Shannon's story in her words here: bit.ly/3TYb9Cq

Mohamad Safa Shameless propaganda. That child has phenylketonuria, a rare inherited disorder. There’s literally more food in Gaza now than there was before it started the war. x.com/avibittmd/stat…

PHENYlketonuria
>PHENYlalanine hydroxylase Deficiency

Alkaptonuria (ALiKA na at HOMe Oxi? :>)
>Homogentisate oxidase Deficiency

Albinism (Albi's Tyrs)
>Tyrosinase Deficiency

I have a cousin in Gaza that has two children with PKU. She has been unable to get the food her children need to eat to avoid brain damage.

Does anyone have any ideas for how we can get her some access to the special diet her children need?

nhs.uk/conditions/phe……

⚠️ GUTHRIE TEST, also called the PKU TEST, is a diagnostic tool to test infants for PHENYLKETONURIA - few days after birth.
💭 Doctors use Guthrie cards to collect capillary blood from an infant's heel & cards are saved for later testing.

#MedEd #MedX #MedTwitter #ClinicalPearl

📢 Call for Papers!

Seeking research on PKU (Phenylketonuria) diagnostics, treatments, and management.

Sub: scholarscentral.org/submissions/ob…

Share your insights! #PKU #CallForPapers

At the Society for Inherited Metabolic Diseases Annual Meeting next week, Jnana will present two posters on our SLC6A19 inhibitor program, including JNT-517, our first-in-class oral treatment in development for phenylketonuria ( #PKU ). SIMD bit.ly/3Q1ikJ4

🟣𝘾𝙇𝙄𝙉𝙄𝘾𝘼𝙇 𝙎𝘾𝙀𝙉𝙀𝙍𝙄𝙊:-

📙With urine turning #green on ferric chloride test ,the diagnosis is:-

A) Phenylketonuria
B) Alkaptonuria
C) Glutaric aciduria
D) Rifampicin drug toxicity

#medx
#medEd
#medtwitter

A) Phenylketonuria

Mohamad Safa That child has phenylketonuria.

📢Call for Papers!

Seeking research on #PKU (Phenylketonuria) diagnostics, treatments, and management.

Sub: scholarscentral.org/submissions/ob…

Share your insights! #obesity #metabolicdisorder #Geneticdisorder

#PKU #CallForPapers

Mohamad Safa Your new low? This girl is suffering from phenylketonuria, a genetic defect passed on by both of her parents.

​🇩​​🇷​ ​🇦​​🇩​​🇳​​🇦​​🇳​🩺 Green urine that results from the ferric chloride test indicates the presence of phenylpyruvic acid, which can indicate Phenylketonuria (PKU).

​🇩​​🇷​ ​🇦​​🇩​​🇳​​🇦​​🇳​🩺 A. Phenylketonuria

​🇩​​🇷​ ​🇦​​🇩​​🇳​​🇦​​🇳​🩺 Phenylketonuria

Today's #WorldHealthDay ESPKU took the opportunity to express its belief that patients w/h #PKU and allied disorders treated as PKU should be provided with access to as many treatment methods as possible. More below:

linkedin.com/posts/espku_wo…

Do not interfere with an enemy who is on the process of destroying itself

​🇩​​🇷​ ​🇦​​🇩​​🇳​​🇦​​🇳​🩺 A) Phenylketonuria

- If a mother has diabetes, lupus, phenylketonuria, or a connective
tissue disease
- If the mother has had rubella during pregnancy
- A routine prenatal ultrasound has discovered possible heart
abnormalities

​🇩​​🇷​ ​🇦​​🇩​​🇳​​🇦​​🇳​🩺 Phenylketonuria, mousy musty odour of urine