About acidemia, isovaleric

What is acidemia, isovaleric?

A rare genetic condition where the body can't process proteins adequately. More specifically, there are insufficient levels of the enzyme needed to break down an amino acid called leucine. This results in a build up of isovaleric acid which can harm the brain and nervous system. Some people suffer severe symptoms from birth and others suffer milder symptoms that come and go and are affected by such things as infections or consumption of high protein food.

What are the symptoms for acidemia, isovaleric?

Isovaleric acidemia is a rare metabolic disorder that ranges in severity from asymptomatic to mild or life-threatening symptoms depending on the mutation and factors predisposing acute attacks. Two major clinical scenarios are often described, an acute form and a chronic intermittent form, but in reality the disease is best thought of as a continuous spectrum from asymptomatic to life threatening. A characteristic ‘sweaty feet’ odor is often present in patient sweat or cerumen due to a buildup of isovaleric acid. Patients may develop aversion early to protein-rich foods.

Acute, early symptoms present soon after birth with increasing Lethargy, poor feeding and Vomiting, progressing to coma. These findings are related to chemical imbalances in the baby including an increase in acid, ammonia, and specific toxic compounds derived from isovaleric acid. Prolonged metabolic stress can lead to low levels of certain types of white blood cells (neutropenia) and other cell types (pancytopenia). Patients may also present with lowered body temperature (hypothermia). After resolution of this first attack, patients typically show the chronic intermittent form of the disease unless severe neurologic damage has occurred due to the original presentation.

After the newborn period chronic intermittent symptoms are usual. Patients can have slowed growth rates (failure to thrive), developmental delay, intellectual disability or symptoms affecting the nervous system such as Seizures and spasticity, most commonly related to early acute damage. Patients can also experience acute attacks similar to the newborn period, typically triggered by other illnesses such as infections. Patients can exhibit a chronic picture even if a newborn acute attack has not occurred. Recognition of acute neonatal symptoms has led to newborn screening for isovaleric acidemia in the United States and many other developed studies. If identified prior to the development of symptoms, outcomes are generally better, with normal growth and development. About half of babies identified through newborn screening have a very mild deficiency that remains asymptomatic and requires no therapy.

What are the causes for acidemia, isovaleric?

Isovaleric acidemia is a genetic disorder inherited in an autosomal recessive pattern. Recessive genetic disorders occur when an individual inherits a non-working gene from each parent. If an individual receives one working gene and one non-working gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the non-working gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier, like the parents, is 50% with each pregnancy. The chance for a child to receive working genes from both parents is 25%. The risk is the same for males and females.

In patients with isovaleric acidemia, there is a mutation in the IVD gene that inactivates the enzyme isovaleryl-Co-enzyme A (CoA) dehydrogenase. This enzyme is needed for the breakdown of the amino acid leucine into energy.

What are the treatments for acidemia, isovaleric?

While there is no cure of isovaleric acidemia, outcome is usually good if severe neonatal symptoms are avoided or treated rapidly. Patients should be followed regularly by a geneticist or metabolic physician familiar with management of organic acidemias. Frequency of follow-up is determined by the severity of the disease and the frequency of acute attacks. Patient should be monitored for growth, development, and dietary history. Additional testing should include blood acid levels, blood counts, and electrolytes. Additionally, physicians may monitor for complications and do examinations of the nervous system, liver, or other organs.

Supplementation with L-carnitine or glycine allows increased removal of acids form the blood by the kidney. Patients typically require a low protein diet to avoid overconsumption of the amino acid leucine. However, patients need enough protein in their diet to meet the body’s demands, which increase over time with growth. However, it may be impossible for patients with severe disease to eat enough natural protein to meet bodily requirements. In this case, use of medical foods that do not include leucine is necessary. A dietician should be available to also help families with creating a low-protein diet for the patient.

During acute attacks, protein should be reduced or withheld for 24 hours with a subsequent increase in low protein, high sugar foods to maintain calorie intake. If a patient cannot eat, hospitalization is required so that glucose can be provided by intravenous fluids. Other metabolic abnormalities such as high ammonia may need to be corrected depending on the individual patient’s clinical findings. A return to the patient’s standard diet can usually be achieved over the course of a few days.

What are the risk factors for acidemia, isovaleric?

Isovaleric acidemia is a hereditary metabolic disorder caused by changes in genetic mutation.

  • The encoding of the gene enzyme "isovaleryl-CoA dehydrogenase" in the body results in this disease.
  • Moreover, it results in the indigestion of protein components such as leucine and amino acid found in the food item.
  • The buildup of undigested food can leads to serious illnesses generally known as metabolic crises.
  • However, the undigested protein leads to the formation of chemicals in the bloodstream that is associated with the risk of vomiting, refusal to eat, listlessness, abnormal lab values, and a sweaty foot odor.
  • Isovaleric acidemia is a rare disorder that either occurs during pregnancy or child at the stage of infant. However, it can affect all genders equally.
  • Since it is a hereditary disease, it passes to the child through parents. This results when an individual inherits a non-working gene from each parent.
  • If the baby receives one non-working gene and one working gene for the disease, the person will be a carrier of the disease, but usually will not show symptoms.
  • However, the chance for a child to receive working genes from both parents is 25%.
  • The disease has no cure, but it can be managed, by consuming a low-protein diet.


Conditions
Sweaty fets odor,Low level of certain types of white blood cells and other body cells,Low body temperature
Drugs
L-carnitine,glycine,Dietary management
Symptoms
Lethargy,Poor feeding,Vomiting,Seizures,Irregular bowls

Is there a cure/medications for acidemia, isovaleric?

Unfortunately, there is no cure for Isovaleric acidemic, but it can be managed, through dietary supplements and dietary restrictions.

  • Since it is a hereditary disease that triggers metabolism and leads to indigestion of protein-rich food, so it can be handled, by excluding protein and leucine-rich food from your daily diet.
  • The undigested protein elements produce a chemical in the bloodstream that is toxic to the body.
  • Usually, a person with isovaleric acidemic is provided with supplements rich in L- carnitine, which allows the removal of increased acids from the blood by the kidney.
  • Patients are prescribed to intake a low protein diet to avoid overconsumption of the amino acid leucine. However, a person also requires a minimum protein intake to meet the body's demands.
  • The risk of associating with the disease is higher at the initial ages of the child. The risk from this disease reduces once the child reaches adolescence.
  • The patient is diagnosed with urine analysis to check the required protein content and the presence of other substances acosiated with isovaleric acidemic in the body.
  • Moreover, the mother with this disease is also monitored with amniocentesis to analyze the fluid surrounding the developing fetus.


Conditions
Sweaty fets odor,Low level of certain types of white blood cells and other body cells,Low body temperature
Drugs
L-carnitine,glycine,Dietary management
Symptoms
Lethargy,Poor feeding,Vomiting,Seizures,Irregular bowls

Video related to acidemia, isovaleric