What are the symptoms of glutaric aciduria?
Symptoms can vary between people but may include:
- Developmental delays in reaching milestones
- Muscle weakness
- Seizures
- Increased tone in muscles, making them stiff
- Changes in behaviour or mood
What causes glutaric aciduria?
Glutaric aciduria is caused by a genetic change that affects enzymes in the body. These enzymes are needed to break down certain amino acids, particularly lysine and tryptophan. Without these enzymes working properly, harmful substances build up. It is inherited from parents who carry the gene for the condition.
How common is glutaric aciduria?
Glutaric aciduria is very rare. It occurs in about 1 in every 100,000 births. Because it is so uncommon, many people may have never heard of it before.
Who is more likely to get glutaric aciduria?
This condition is more likely to occur in families with a history of metabolic disorders. Since it is inherited, if parents are carriers of the genetic change, their children may also have a higher risk of getting the condition.
How can I treat glutaric aciduria?
Although there is no cure, treatment focuses on managing symptoms and preventing complications. This may include:
- A special diet low in certain amino acids
- Supplements to provide necessary nutrients
- Regular check-ups with healthcare professionals
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How to live with glutaric aciduria?
Living with glutaric aciduria involves ongoing support and care. People may need help with:
- Following a special diet
- Physical therapy to address muscle weakness
- Regular monitoring for any new symptoms or health concerns
What support is available for people with glutaric aciduria?
Support can be found through healthcare professionals, dietitians, and support groups. These resources can help families understand the condition and find ways to manage everyday challenges.
What’s the outlook for glutaric aciduria?
With proper care and treatment, many people with glutaric aciduria can lead healthy lives. However, they may need extra help at various points in their lives, especially during growth and development.
Final thoughts
Glutaric aciduria is a serious condition that requires ongoing attention and care. If you have any concerns about symptoms or the condition, it is important to talk to your GP or healthcare provider.
