Anyone else have genetic testing done? Our RE had DH complete a saliva kit as part of our Eval with him and we just got the results. Pretty interesting. I am going to submit the kit myself, just ordered it online. RE said that the probability that I am a carrier as well is about 1 in 100,000 so that's good, but now I am curious. Here were the results! (it's pretty long)
Isovaleric Acidemia - Increased risk
Your child's risk:
1 in 1,000
Risk before testing:
1 in 250,000
In isovaleric acidemia, the body is unable to properly process proteins, leading to a buildup of organic acid in the blood. If allowed to reach toxic levels, this acid can cause permanent brain damage and can even be life-threatening. If treated with a low-protein diet, however, children with isovaleric academia can lead fairly normal lives.
IVD:p.Ala282Val (A311V) heterozygote.
Interpretation: This individual is a carrier of isovaleric acidemia. Carriers generally do not experience symptoms. The A311V mutation is associated with a mild or asymptomatic form of this disease.
Based on the results of your Universal Genetic Test for isovaleric acidemia, your future children have the following odds of being impacted by the disease:
Your Child's Risk
Affected 1 in 1,000
Carrier 1 in 2
Unaffected 1 in 2
The Universal Genetic Test indicates that (DH) is a carrier of isovaleric acidemia.
Taking into account (DH)'s positive result and assuming that his partner has an average risk of being a carrier of isovaleric acidemia, (DH)'s children would have a 1 in 1,000 chance of developing isovaleric acidemia.
Test (DH)'s Partner
With isovaleric acidemia, both parents must be carriers before a child is at high risk of developing the disease. This means that the risk to (DH)'s future children depends upon his female partner's carrier status. If (DH)'s partner is not a carrier of isovaleric acidemia, the couple's child would be at low risk of developing the disease. If (DH)'s partner is also a carrier of isovaleric acidemia, however, the couple's children would be at high risk of developing the disease.
For this reason, a physician or genetic counselor may recommend that (DH)'s female partner also undergo carrier testing for isovaleric acidemia.
If his partner takes the Universal Genetic Test, Counsyl can give (DH) more accurate odds that any children he and his partner have together will develop isovaleric acidemia.
There is an increased risk of (DH)'s future children inheriting the disease.
What is Isovaleric Acidemia?
Isovaleric acidemia (IVA) is an inherited disorder in which the body is unable to properly process proteins, leading to a toxic buildup of isovaleric acid in the blood.
Some people with the genetic mutations that cause IVA do not show symptoms of the disease. The reason for this lack of symptoms is not entirely understood.
As the body digests proteins, it breaks them into smaller parts called amino acids. People with IVA lack a properly-working enzyme necessary to break down a common amino acid called leucine. As a result, an organic acid called isovaleric acid reaches toxic levels in the blood and can cause damage to the brain and nervous system. If left untreated, IVA can lead to seizures, coma, and death. Treatment with an appropriate low-protein diet, however, can lead to fairly normal growth, development, and lifespan.
There are two forms of IVA, one which appears shortly after birth and is rapidly life-threatening, and another which may appear later in childhood as episodes of illness.
The form of IVA seen in newborns appears within two weeks of birth. Initial symptoms include lack of energy, poor appetite, vomiting, and difficulty staying warm. The buildup of isovaleric acid often gives them an odor of sweaty feet. If untreated, these infants will progress to a more serious metabolic crisis, suffering seizures, coma, swelling or bleeding of the brain, and even death.
The childhood form of IVA often appears around the child's first birthday and its symptoms?nearly identical to the infantile form of the disease?may come and go over time, flaring up particularly during times of illness, high protein consumption, or long periods without food. Between periods of crisis, the child can be healthy, however overall these children may show poor growth, muscle weakness, or learning problems. Some infants who have the more severe, early-onset form of the disease can progress to the more episodic form later in life.
IVA is part of a group of diseases known as organic acid disorders.
How Common is Isovaleric Acidemia?
IVA affects at least 1 in 250,000 Americans.
How is Isovaleric Acidemia Treated?
People with IVA must eat a diet low in proteins, minimizing foods such as dairy products, meat, fish, eggs, legumes, and nuts. The body does need protein, however, and a nutritionist or other medical professional can help devise an appropriate diet. This may include foods made especially for people with organic acid disorders. Supplements of carnitine and/or glycine may be prescribed. These supplements bind with isovaleric acid and turn it into a less harmful compound.
People with IVA should have close contact with a physician during times of illness. At these times, the body may break down its own protein, leading to a buildup of isovaleric acid. Typically people with IVA need to eat more carbohydrates and drink more fluids during times of illness, even if they are not hungry or thirsty.
Any time a child with IVA experiences a metabolic crisis, he or she needs prompt treatment, which may include a hospital visit.
What is the Prognosis for a Person With Isovaleric Acidemia?
If the disease is recognized promptly and treated diligently, children with IVA can live near-normal lives. It is possible, however, that they will have episodes of metabolic crisis, although these episodes tend to decrease with age. If these episodes are not treated, irreversible learning problems or mental disability can occur.
Those who do not develop any symptoms of the disease can be expected to live a normal lifespan.