Citrullinemia type II

Adult-onset citrullinemia type II

Overview

Type of disease: Rare conditions

Citrullinemia type II (CIT II) is a rare genetic condition. CIT II results from a mutation (error) in one’s DNA. Due to this mistake, people with CIT II are unable to produce an important enzyme, citrin. The function of citrin is to move substances within a cell. Enzymes are special proteins that help break down food into pieces. Once the food is broken down it is used as energy to make other proteins the body needs. People without citrin may not break down citrulline, which is a building block found in many proteins we eat. These substances are important for breaking down sugars, making proteins, and for the normal function of the liver. Those affected by CIT II typically develop symptoms in infancy, adolescence, or adulthood. Symptoms include yellowish skin and eyes (jaundice), low birth weight, confusion, restlessness, memory loss, low blood sugar, and abnormal behaviors.

CIT II is inherited in an autosomal recessive pattern. Meaning, the child must inherit two copies of the non-working gene in order to have CIT II. A low carbohydrate diet, supplements, or medications may be recommended by your doctor in order to treat this condition. Arginine supplements may be prescribed to help reduce the ammonia levels in the blood, since a harmful amount of ammonia may build up in the body as a result of CIT II. Many babies are screened at birth so that treatment may begin early, however the conditions included in newborn screening vary state by state. For more information, visit Baby’s First Test. with your doctor to determine which treatment options are best for your child. Support groups also a good source of information.

Connect. Empower. Inspire.