What are the symptoms of isovaleric acidaemia?
Symptoms can vary from mild to severe. They may include:
- Foul-smelling sweat
- Abnormalities in body odour
- Vomiting
- Extreme tiredness
- Decreased appetite
- Confusion or irritability
- Seizures in severe cases
What causes isovaleric acidaemia?
This condition is caused by a change in a gene that creates an enzyme needed to break down leucine. When this enzyme is missing or doesn’t work properly, leucine builds up in the body, leading to problems.
How common is isovaleric acidaemia?
Isovaleric acidaemia is very rare, affecting only a small number of people. It is inherited from parents who may not show any symptoms themselves.
Who is more likely to get isovaleric acidaemia?
Isovaleric acidaemia typically runs in families. People who have a family history of this metabolic disorder are more likely to have it.
How can I treat isovaleric acidaemia?
The treatment focuses on managing symptoms and preventing problems. This may include:
- A special diet low in leucine
- Frequent medical check-ups
- Taking supplements to help with the body’s needs
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How to live with isovaleric acidaemia?
Living with isovaleric acidaemia means making dietary adjustments and attending regular medical appointments. It is essential to work with healthcare providers to manage the condition properly. People with this condition may need support from family and friends to help them stick to their dietary needs and keep track of their health.
Final thoughts
Isovaleric acidaemia is a rare condition that requires careful management. If you have concerns or are experiencing symptoms, it’s important to speak to your GP or healthcare provider for advice and support.
