Trypsinogen deficiency

Overview

Type of disease: Genetic, autosomal recessive | Rare conditions

Trypsinogen deficiency is a rare genetic disorder that involves the protein trypsinogen. The primary symptom of trypsinogen deficiency is a failure to grow normally and at the rate that is typical of other children. Other symptoms of trypsinogen deficiency include swelling due to not enough protein reuptake (nutritional edema) and abnormal amounts of protein in the blood. Although there is an odd level of protein, “sweat electrolytes” (sodium and chloride) are typically maintained at normal levels to help with chemical processes and balance.

There were two male infants reported to be affected by trypsinogen deficiency in 1965 and 1967. They both had deficiency of trypsinogen. Research shows that the so-called deficiency may actually be a complete absence of trypsinogen.

Trypsinogen deficiency is inherited in an autosomal recessive pattern. This means both parents of the individual must pass down a changed (mutated) gene in order for the individual to have the condition. A person with one changed gene is called a carrier because they have one changed and one unchanged copy of the gene. A carrier usually does not show symptoms of the condition. If both parents are carriers of trypsinogen deficiency, each of their children has a one in four (25%) chance of having the condition.

It has been suggested that managing food intake can help ease the effects of trypsinogen deficiency. If you or a family member has been diagnosed with trypsinogen deficiency, talk with your doctor about the most current treatment options. Support groups are also good resources of support and information.

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