Isovaleric Acidemia: Causes, Symptoms, Complications, And Treatment

Isovaleric Acidemia is a rare form of a genetic mutation that affects the complete digestion of amino acids. This organic acid disorder hinders an individual ability to break down protein building blocks. This results in the development of high organic acid in blood and urine leading to serious internal damages and critical medical illness. It also creates a state of lethargy and constant weakness due to the lack of protein in our body.

In most cases, it can be found and controlled at early stages as the gene behind the source has been discovered. It is a slowly progressive disease that gives a longer life span.

Summary: Isovaleric Acidemia is a rare and inherited condition in which the person’s body is mutated to hinder the breaking of specific building blocks of protein. This is one of the most dangerous diseases as protein deficiency can cause critical medical illnesses.

Symptoms of Isovaleric Acidemia are the most common problems that could lead to many possibilities. This makes it hard to diagnose in the early childhood and infancy stages. The key difference between any normal disease and Isovaleric Acidemia is the frequency and duration of the symptoms. Contact your medical professional if you see the following symptoms:

• Poor feeding
• Vomiting
• Lack of energy
• Low muscle tone
• Tremor
• The odor of sweaty feet
• Seizures
• Coma
• Fasting
• Infections
• Eating an increased amount of protein-rich foods

Summary: Symptoms of Isovaleric Acidemia are hard to diagnose as they are quite similar to other common digestive problems. It not only makes it hard to detect but also increases the duration of the disease inside an individual’s body.

Inheritance of the mutated gene known as IVD can be the root cause of the disorder. If both of the parents have abnormal but deactivated IVD genes. Then it can get activated in the body of your child. This type of gene mutation is known as Autosomal recessive disease. It is a pattern of inheritance where the affected individual possesses two copies of the mutant gene.

This can also happen if one copy of the gene is dominant and one copy is recessive. The chances of getting affected by the genetic mutation can be different, for example, there is a 25% chance that a child may turn out to be normal with no mutation whatsoever or become get affected with two recessive genes, but in this case, there is a 50% chance that the offspring will become a carrier of the disease with no such medical condition.

Summary: Scientists have discovered the key genetic mutation that is responsible for Isovaleric Acidemia. Mutation in GLI3 is the reason behind this autosomal recessive disease.

The diagnosis of Isovaleric Acidemia may start at the time of pregnancy if one or both of the parents have any medical or family history of it. If yes, the newborn will be kept under observation for a few days where the doctors conduct all the testing and medical care.

If not, one may have to see the symptoms in your newborn to be aware of the presence of Isovaleric Acidemia.

The testing can include MRI, CT scans, alongside a molecular genetic test to confirm the mutations in the IVD gene.

Summary: To diagnose this disorder, the doctor will conduct a physical examination followed by medical history and family background analysis.

It is an inherited disorder that can’t be prevented. But you can reduce the repercussions associated with the disease by following the right medical advice.

Summary: Isovaleric Acidemia can’t be prevented by any treatment or medicine. One can only reduce the severity by following expert advice.

As of now, there is no treatment available that is specifically dedicated to resolving this medical issue. However, several treatments focusing on each problem are recommended to lower the impact of the disease. The treatment may include medication, therapy, and other treatments to decrease the discomfort and pain.

Summary: Contact the expert if you notice any distinct or unusual symptoms associated with Isovaleric Acidemia.

Diseases like Isovaleric Acidemia do not go away on their own. It can cause a critical life situation if not treated on time.

There is no such specially designed treatment that can prevent genetic mutation in a human body. However, In the case of Isovaleric Acidemia, the treatment will be focused on the individual symptoms. It usually includes medications and therapies for physical and mental wellness.

Summary: The treatment plan associated with Isovaleric Acidemia is not well established yet. But your doctor will make a customized treatment plan which helps you manage the damage caused by genetic mutations.

A healthy diet always contributes to making a person live longer and healthier. Hence, one is advised to take a good diet followed by great medical advice. But no diet can ever treat genetic deformities. A balanced diet can only make you healthy but can’t prevent you from inherited diseases.

Ask your doctor for a complete diet plan if you are on medication. There are certain medicines that can’t go well with certain food items. So, it is important to take the doctor’s advice about dietary indications.

The treatment prescribed under Isovaleric Acidemia does not have any exact side effects. But if you are allergic to any of the compounds present in the medications it might give you allergic reactions. Doctor consultation is best if you experience any form of discomfort from the medications.

Summary: The side effects of the treatment may depend on the type of medication prescribed for the treatment. Also if you notice any sort of allergic reaction after taking the treatment then rush to the nearest hospital.

Yes, if you notice any unusual symptoms, then immediately reach out to the doctor to get help.

Summary: Urgent care is needed in case you witness any of the above symptoms.

The treatment of the disease merely depends on each case and the method that has been selected to do so. But since it is a genetic disorder, one may find it hard to look for complete recovery.

Medical consultation may start from as low as INR 500 per hour and can go up to INR 2000 per hour depending on the doctor. Medication and general treatments can cause up to one lac per year, whereas major surgical procedures can cost around 3-5 lac.

Summary: Annual expenditure of an individual under the treatment of Isovaleric Acidemia is approximately 5-7 lac, which includes medications, consultations, and therapies associated with protein digestion.

Genetic disorders like Isovaleric Acidemia cannot be cured by physical exercises. But adequate physical activity can help you keep your body healthy and strong. For more information, ask the doctor for specific physical routines during Isovaleric Acidemia treatment.

Summary: There is no specific physical exercise designed in order to cure Isovaleric Acidemia. Physical exercise can only make you fit and keep you away from problems that are not genetic.

No medications or treatment has been discovered yet to cure genetic disorders. So your doctor will only design a course of treatment that is suitable to manage the damage caused by the genetic mutations.

Summary: There is no medicine available that can cure Isovaleric Acidemia. But your doctor may prescribe you certain drugs and therapies to reduce the complications associated with this genetic disorder.

No, the effects of the treatment on patients are not permanent. The symptoms may re-appear in case of delayed treatment.

Summary: Since the nature of the disease is genetic in nature, the result of the treatment cannot be permanent.

Genetic disorders like Isovaleric Acidemia do not have a designated treatment plan that can completely cure the problem. So your doctor is giving you a course of treatment which might help you to manage your health. This form of course of treatment does not have any sort of alternatives whatsoever. But if you are facing any allergic reactions post-consumption, contact your doctor for the solutions.

Summary: Since there is no specific treatment plan available, your doctor will make one based on your existing symptoms. So there is no alternative present at the current moment.

People who are suffering from Isovaleric Acidemia are eligible for the treatment. Also, people with the same set of symptoms mentioned above can consult a doctor for diagnosis and treatment plans.

People who are not suffering from Isovaleric Acidemia are not eligible for the treatment.

Since there is no cure for the disease the treatment of Isovaleric Acidemia will go as long as the person survives.

Summary: Isovaleric Acidemia is a rare form of a genetic mutation that affects the complete digestion of amino acids. This organic acid disorder hinders an individual ability to break down protein building blocks. There is no current treatment available, however, medication and therapy associated with protein digestion can be given. IVD gene mutation is behind the Odourorganic acid disorder.