Top Tweets for #HCUFact
#HCUAwareness2022 #HCUFact 30:
#SevereMTHFR is the rarest form of #Homocystinuria. Treatment for #MTHFR includes Betaine, folinic acid or methylfolate and/or L-Methionine. If untreated, patients are at risk for weak muscle tone, cognitive decline, & thrombosis.
#HopeConnectsUs
#HCUAwareness2022 #HCUFact 23
In 2020 clinical and molecular characterization of adult patients with late-onset #MTHFR deficiency was published, underlining the still unmet need for a prompt diagnosis of this treatable disease.
๐Listen to learn more:
https://t.co/Ns02msT1Uo
#HCUAwareness2022 : #HCUFact 22
Every #SevereMTHFR patient will experience their own unique journey.
Carson was diagnosed with #HCU due to MTHFR deficiency, at 2 weeks old by the FL #NewbornScreening Test.
Read more about her story here: https://t.co/XvSa1UDDm1
#HCUAwareness2022 #HCUFact 21
Patients with severe #MTHFR should avoid the following:
-Folic Acid
-Protein Restriction
-Nitrous Oxide
-Dehydration
-Fasting
#Homocystinuria #RemethylationDisorders #GoBlueForHCU #HopeConnectsUs
#HCUAwareness2022 #HCUFact 18:
โก๏ธ While severe #MTHFR is the rarest form of #Homocystinuria, the 2 common mild variants (โC677Tโ and โA1298Gโ ) are found in the gene in approximately 10-15% of the population. HCU Network America only focuses on the severe form.
#HCUAwareness2022 #HCUFact 17:
โก๏ธ Today starts severe #MTHFR awareness! ๐
๐น#MTHFR stands for methylenetetrahydrofolate reductase. #SevereMTHFR occurs when a patient has no MTHFR/ extremely low, <1% activity.
๐นMTHFR connects folate & methionine cycles.
#HCUAwareness2022: #HCUFact 15
๐นEvery Cobalamin patient will experience their own unique journey & variety of symptoms.
๐ Listen as Robert and Brittany describe their sons' journeys with #Homocystinuria due to #CobalaminG defect.
https://t.co/jeg4G1HIdh
#HCUAwareness2022 #HCUFact 13:
#Cobalamin disorders are diverse, not all symptoms may apply. Symptoms may include:
-Poor feeding & growth
-Global developmental delays
-Seizures
-Maculopathy (vision loss)
#GoBlueForHCU
https://t.co/13MEcpiFMu
#HCUAwareness2022 #HCUFact 12:
#Cobalamin treatment:
1) Injectable B12 (Hydroxocobalamin (OHCbl)
2) High #homocysteine should also be treated w/ betaine & folate/folinic acid
3) Cbl patients should NOT follow a low-protein diet
4) G-Tubes may be placed in some patients
#HCUAwareness2022 #HCUFact 11:
The most common #CobalaminDisorder is cblC - estimated to affect 1 in 200,000 worldwide.
Other types of Cbl Defects are less common.
<40 cases have been described for cblE and cblG, & <20 cases of cblD, cblF, cblJ, & cblX!
#Homocystinuria
#HCUAwareness2022 #HCUFact 10:
Today kicks off #Cobalamin (Cbl) awareness week! ๐
Vitamin B12 or cobalamin is critical for multiple jobs our bodies do.โฏ In the case of #homocysteine, B12 is needed to convert it to the safer amino acid, #methionine.
#HCUAwareness2022 : #HCUFact 4: Classical #Homocystinuria affects approximately 1 in 200,000 in the US. This number is likely higher, due to missed diagnoses.
Watch to see how being missed at #NewbornScreening led to complications for one young patient: https://t.co/GzrVk5Y6Pa
Today starts Classical Homocystinuria awareness week! ๐
#HCUAwareness2022 #HCUFact 3: Classical #homocystinuria, also known as Cystathionine-Beta Synthase affects individuals who are born with defects in both copies of Cystathionine-Beta Synthase.
#GoBlueForHCU #HopeConnectsUs
#HCUAwareness2022 #HCUFact 2 - #Homocystinuria follows an autosomal recessive pattern. Both parents must be carriers in order to have a child w/one of the homocystinurias. The one exception is Cobalamin X - which in addition to being autosomal recessive is X-linked.
#HCUAwareness2021 #HCUFact 23
New Research:
In 2020 Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency was published, underlining the still unmet need of a prompt diagnosis of this treatable disease.
Listen
https://t.co/Ns02msBr2Q
#HCUAwareness2021 #HCUFact 19: Severe #MTHFR Symptoms
Early Onset:
-Feeding difficulties
-lethargic
-hydrocephalus
-low muscle tone
Late Onset:
-Cognitive decline
-thrombosis
-psychiatric symptoms
-seizures or movement disorders
#HCUAwareness2021 #HCUFact 17:
Today starts severe #MTHFR awareness.
MTHFR stands for methylenetetrahydrofolate reductase. #SevereMTHFR occurs when a patient has no MTHFR/ extremely low, <1% activity.
MTHFR connects folate & methionine cycles.
#HCUAwareness2021 : #HCUFact 15
Every Cobalamin patient will experience their own unique journey and variety of symptoms.
Check out April 2021 #HCUHero: Kyler from Texas patient story.
https://t.co/1rt5VFmjK7
Yesterday's #HCUFact focused on treatment for #CobalaminDisorders - Betaine/Cystadane is one of those medications.
Getting your child to consume their Betaine can sometimes be tricky. See how Brittany gets Grayson to take his!
How do you get your child to take their Betaine?
#HCUAwareness2021 #HCUFact 10c.
Cobalamin (cbl) disorders can be confusing since we call them by letters of the alphabet in the order they were discovered, CblC deficiency, CblD deficiency, CblE deficiency, CblF deficiency, CblG deficiency, CblX deficiency, etc.
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