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Does Pyruvate Dehydrogenase Complex Deficiency have a cure?

Here you can see if Pyruvate Dehydrogenase Complex Deficiency has a cure or not yet. If there is no cure yet, is Pyruvate Dehydrogenase Complex Deficiency chronic? Will a cure soon be discovered?

Pyruvate Dehydrogenase Complex Deficiency cure

Pyruvate Dehydrogenase Complex Deficiency is a rare genetic disorder that affects the body's ability to convert food into energy. Unfortunately, there is currently no known cure for this condition. Treatment mainly focuses on managing symptoms and providing supportive care to improve quality of life. Early diagnosis and intervention can help in managing the symptoms effectively. It is important to consult with a healthcare professional for personalized advice and guidance.



Pyruvate Dehydrogenase Complex Deficiency is a rare genetic disorder that affects the body's ability to convert food into energy. It is caused by mutations in the genes responsible for producing the pyruvate dehydrogenase complex, an enzyme complex involved in the process of cellular respiration.



Unfortunately, there is currently no known cure for Pyruvate Dehydrogenase Complex Deficiency. Treatment options mainly focus on managing the symptoms and improving the quality of life for affected individuals. These treatment approaches may include:




  • Dietary modifications: A specialized diet low in carbohydrates and high in fat may be recommended to provide an alternative energy source for the body.

  • Supplementation: Certain supplements, such as thiamine or lipoic acid, may be prescribed to support the function of the pyruvate dehydrogenase complex.

  • Physical therapy: Physical therapy can help individuals with muscle weakness or motor impairments to improve their strength, coordination, and mobility.

  • Medications: Some medications may be prescribed to manage specific symptoms, such as seizures or muscle spasms.



It is important for individuals with Pyruvate Dehydrogenase Complex Deficiency to receive ongoing medical care and monitoring to address any potential complications and optimize their overall health. Research efforts are ongoing to better understand the condition and develop potential future treatments.


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World map of Pyruvate Dehydrogenase Complex Deficiency

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Stories of Pyruvate Dehydrogenase Complex Deficiency

PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY STORIES
Pyruvate Dehydrogenase Complex Deficiency stories
Our son Noah was severely affected. He passed from complications of PDCD & RSV in 2008. He was 8 months old.
Pyruvate Dehydrogenase Complex Deficiency stories
Lauren was born in 2002 and was diagnosed at about 2 years. She died in 2012 from respiratory acidosis resulting from progressive pdh deficiency.  She had a trachy, portacath and was Fed by ng tube. She was an inspirational brave and very happy litt...
Pyruvate Dehydrogenase Complex Deficiency stories
Kayleigh Grace was born in November of 2016 and diagnosed with pyruvate dehydrogenase complex deficiency at a few days old, by some miracle her geneticist caught on to her rising lactic acid levels by blood test. On top of that she had severe brain l...
Pyruvate Dehydrogenase Complex Deficiency stories
Grace passed away age 7 after fighting Pdh deficiency from birth  Her baby sister Hope was lost at 14.4 weeks pregnant due to having the condition aswell.  I am a carrier of PDH. 

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