Type of disease: Rare conditions

Hyperimidodipeptiduria is a rare genetic condition that causes problems with the breakdown of proteins in the body. Individuals may express a variety of symptoms, including an enlarged spleen and liver, diarrhea, vomiting, and dehydration. People with this condition also have specific facial features, including eyes that are far apart, a high forehead, a flat nose bridge, and a small lower jaw and chin. Individuals may develop skin problems ranging from rashes to ulcers on the hands, feet, lower legs, and face. About 75% of individuals with hyperimidodipeptiduria have an intellectual disability. The condition may appear at different times for different individuals, either during infancy, childhood, or adulthood.

Hyperimidodipeptiduria is a genetic condition caused by a change (mutation) in the PEPD gene. This condition is passed down from parent to child in an autosomal recessive manner. This means one mutation from each parent is inherited in order to cause symptoms. A person with only one mutation is called a carrier because they “carry” one changed copy and one unchanged copy of the gene. Carriers also show no signs or symptoms of the condition. If both parents are carriers, each of their children has a one in four chance (25%) of having the condition and a 50/50 chance of being a carrier.

Doctors can diagnose hyperimidodipeptiduria by looking at clinical symptoms or by looking at levels of specific proteins in the urine. Treatment depends on the symptoms shown by the individual. It is important to monitor any skin, lung, and immune system problems. The outcome for individuals with hyperimidodipeptiduria varies based on the symptoms, but individuals usually have a reduced quality of life due to complications from the condition.

If you or a family member has been diagnosed with hyperimidodipeptiduria, talk with your doctor about the most current treatment options.

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