What are the other Names for this Condition? (Also known as/Synonyms)

• Disorder of Isoleucine Metabolism
• Tiglic Aciduria

What is Tiglic Acidemia? (Definition/Background Information)

• Tiglic Acidemia is a rare congenital disorder, characterized by elevated levels of tiglic acid in blood, due to inefficient breakdown of the branched amino acid isoleucine. Normally, the breakdown of isoleucine leads to the formation of propionic acid
• The exact gene mutation that leads to Tiglic Acidemia is not known. The condition is believed to be inherited in an autosomal recessive manner

Who gets Tiglic Acidemia? (Age and Sex Distribution)

• Tiglic Acidemia is a rare congenital disorder. The presentation of symptoms may occur soon after birth
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Tiglic Acidemia? (Predisposing Factors)

• A positive family history may be an important risk factor, since Tiglic Acidemia can be inherited
• Children born to consanguineous parents bear an increased risk of developing the condition

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Tiglic Acidemia? (Etiology)

Tiglic Acidemia is caused by inefficient breakdown of isoleucine, a branched amino acid.

• A partial block of an intermediate step (thiolase) in the breakdown process may lead to the accumulation of tiglic acid
• The gene mutation that leads to the abnormal breakdown is not known
• Tiglic Acidemia is believed to be inherited in an autosomal recessive manner

Autosomal recessive mode of inheritance: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Tiglic Acidemia?

The signs and symptoms of Tiglic Acidemia may include:

• Acidosis
• Aminoaciduria
• Episodic abdominal pain
• Ketosis

(Source: Tiglic Acidemia; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

• Vomiting
• Diarrhea
• Lethargy
• Labored breathing
• Poor feeding

How is Tiglic Acidemia Diagnosed?

Tiglic Acidemia is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies, such as gas chromatography using body fluids from affected individuals
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Tiglic Acidemia?

The complications of Tiglic Acidemia may include:

• Recurrent episodes of severe acidosis
• Respiratory distress
• Seizures
• Coma
• Psychomotor damage
• Cardiac arrest

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Tiglic Acidemia Treated?

There is no cure for Tiglic Acidemia, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complication that develop.

How can Tiglic Acidemia be Prevented?

Tiglic Acidemia may not be preventable, since it is a genetic disorder.

• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Affected individuals may be able to reduce the severity of episodes by resorting to a low protein diet that is rich in isoleucine
• Having a plan in place for management of acute episodes of acidosis may help in reducing the severity of the same
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Tiglic Acidemia? (Outcomes/Resolutions)

• The prognosis of Tiglic Acidemia is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Without medical care, seizure, coma and death may ensue in the affected individuals
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Tiglic Acidemia:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/