Isovaleric acidemia

Symptoms

What are the main symptoms of Isovaleric Acidemia?

The main symptoms of Isovaleric Acidemia are poor feeding, vomiting, seizures, a lack of energy (lethargy), difficulty growing and gaining weight, developmental delay, and an odor of sweaty feet during sickness. Sometimes these health problems can lead to more serious problems such as a coma or even death. If you notice any of these symptoms in yourself or someone you know, ask your doctor about how to get tested for Isovaleric Acidemia.

References
  • http://ghr.nlm.nih.gov/condition/isovaleric-acidemia
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Are there earlier onset, later onset, or variant forms of Isovaleric Acidemia?

What health problems should I look for in Isovaleric Acidemia?

Are there any other diseases that look a lot like Isovaleric Acidemia?

Are there "odd" or "unusual" symptoms or clinical features of Isovaleric Acidemia?

Is there variable expression or incomplete penetrance in Isovaleric Acidemia?

If someone has genetic changes for Isovaleric Acidemia, what are the chances they will have this condition?

Are there earlier onset, later onset, or variant forms of Isovaleric Acidemia?

In people with severe forms of Isovaleric Acidemia, symptoms can be present from the first few days of life and can be so serious that it can cause death if not diagnosed and treated properly. Other people with more mild cases of Isovaleric Acidemia can have their first symptoms appear during childhood and these may come and go over periods of time. Some people with genetic changes that cause Isovaleric Acidemia do not have any symptoms of the condition. If you know you have the genetic changes that cause Isovaleric Acidemia, it is important to follow your doctor's instructions, especially during an illness.

References
  • http://ghr.nlm.nih.gov/condition/isovaleric-acidemia
  • http://www.omim.org/entry/243500
What health problems should I look for in Isovaleric Acidemia?

The main health problems that people with Isovaleric Acidemia usually have can include poor feeding, vomiting, seizures, a lack of energy (lethargy), and an odor of sweaty feet during sickness. Sometimes these health problems can lead to more serious problems such as a coma or even death. When people who have IVA become sick, they must be treated right away. If you have these symptoms, speak with your doctor about testing for this condition. Since this condition is on the newborn screen, most babies are now tested for this condition at birth and diagnosed within the first few weeks of life.

References
  • http://ghr.nlm.nih.gov/condition/isovaleric-acidemia
Are there any other diseases that look a lot like Isovaleric Acidemia?

If a child has a newborn screen that is positive for Isovaleric Acidemia, they may actually have Isovaleric Acidemia or another condition called 2-Methylbutyrylglycinuria (2MBG). A doctor or genetic counselor can suggest additional testing that can distinguish between these two conditions. There are also some genetic conditions that cause symptoms similar to Isovaleric Acidemia such as Propionic Acidemia and Methylmalonic Acidemia. Your doctor can find out if you need any further testing for these conditions as well.

References
  • https://www.acmg.net/StaticContent/ACT/C5.pdf
  • http://www.ncbi.nlm.nih.gov/books/NBK1134/
Are there "odd" or "unusual" symptoms or clinical features of Isovaleric Acidemia?

One of the unique features of Isovaleric Acidemia is a “sweaty foot” odor of the person with this condition when they are sick. If you notice this "sweaty foot" odor during illness in yourself or your child, talk to your doctor about whether you need testing for Isovaleric Acidemia. This odor has been described as smelling like "laundry" or like "a person who just worked out at the gym."

References
  • http://ghr.nlm.nih.gov/condition/isovaleric-acidemia
  • http://www.ncbi.nlm.nih.gov/books/NBK1134/
Is there variable expression or incomplete penetrance in Isovaleric Acidemia?

Different people with Isovaleric Acidemia will have different symptoms and different severities of the condition. This is called variable expression. Some people who have IVA get sick often and have "metabolic crisis" often. Others do not have metabolic crisis ever or have had very few over their lifetime.

Penetrance refers to the chance that someone who has genetic changes (mutations) in the gene that causes Isovaleric Acidemia will show symptoms of the condition. Because some people with mutations that are known to cause Isovaleric Acidemia have been found who have no symptoms of the condition, Isovaleric Acidemia is not 100% penetrant.

References
  • http://ghr.nlm.nih.gov/condition/isovaleric-acidemia
  • http://www.omim.org/entry/243500
If someone has genetic changes for Isovaleric Acidemia, what are the chances they will have this condition?

Having genetic changes (mutations) in the IVD gene associated with Isovaleric Acidemia is not a predisposition, but a cause of Isovaleric Acidemia. However, not everyone who has mutations in the IVD gene will have the same severity of symptoms. As of June 2016, there have been children found to have Isovaleric Acidemia through newborn screening programs. Some of their older siblings with the same genetic mutations have had no signs or symptoms of IVA. If you have a younger child who was diagnosed with Isovaleric Acidemia through newborn screening or some other way, talk to your doctor about testing for your older children.

References
  • http://www.omim.org/entry/243500

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