Trifunctional Protein Deficiency: Symptoms Of TFP Deficiency

Trifunctional protein deficiency is a rare disorder, which prevents long chain fatty acids to get converted into energy during fasting, or in crisis of absence of food.

It can also be precipitated by viral illness.

Trifunctional Protein Deficiency

Trifunctional protein deficiency is a hereditary disease; parents of the child may be carriers and have 25% chance of having a child with trifunctional protein deficiency in next pregnancy.

People suffering from TFP deficiency are deficient in certain enzyme which breaks down long chain fatty acids to convert it into energy.

New born screening for TFP deficiency helps the condition to be diagnosed quickly and get the required treatment at the earliest, as failure to diagnose the condition in infancy will have less survival chances for the infant.

Symptoms Of Protein Deficiency

Signs and symptoms of trifunctional protein deficiency:

  • In childhood the symptoms of metabolic crisis include, sleepiness, hypoglycemia, loss of appetite, weakness, behavioral change, diarrhea, fever, blood acidosis, breathing problems, seizures and death follows if the crisis is not treated.
  • The condition is triggered when the child remains hungry for a long time, or after exercise, or after a surgery.
  • Learning problems and mental retardation.
  • After 3 years till adulthood, the child may not suffer from metabolic crisis, but may have aches, cramps, and breathlessness and in some cases renal failure if not treated.

Diagnosis is possible by urine, blood and skin biopsy tests.

Treatment For TFP Deficiency

There is no specific cure for trifunctional protein deficiency; the aim of the treatment is prolong the life span with a best out come.

  • Treatment has to be followed life long. The child will require high carbohydrate and low fat diet.
  • Child should not fast or stay hungry for a prolonged time.
  • The patient may need hospitalization in case if falls sick, to avoid hypoglycemia.
  • Supplementary fatty oils are prescribed by physicians for TFP deficient patients.
  • Cold climate and heavy exercise should be avoided, as it can trigger the symptoms.