SNP Shot: Genomic Insights

Prolidase deficiency is a condition characterized by diverse symptoms, often manifesting in infancy. Common signs include an enlarged spleen (splenomegaly), or both an enlarged spleen and liver (hepatosplenomegaly). Gastrointestinal issues like diarrhea, vomiting, and dehydration can also occur. Individuals with this deficiency are prone to severe skin and ear infections, as well as potentially life-threatening respiratory infections. Some may also develop chronic lung disease.

Facial characteristics associated with prolidase deficiency include prominent, widely spaced eyes (hypertelorism), a high forehead, a flat nasal bridge, and a small lower jaw and chin (micrognathia). Developmental delays are common in affected children, and approximately 75% of individuals with prolidase deficiency experience intellectual disability, ranging in severity from mild to severe.

Skin lesions frequently develop in individuals with prolidase deficiency, particularly on the hands, feet, lower legs, and face. The severity of these skin problems, which usually begin in childhood, can vary from a mild rash to severe skin ulcers. Leg ulcers, in particular, may be slow to heal and can lead to complications such as infection and the need for amputation.

The severity of prolidase deficiency symptoms differs significantly among those affected. Some individuals may not exhibit any symptoms at all. In such cases, the condition may be identified through laboratory tests, such as newborn screenings or testing offered to family members of individuals already diagnosed with the disorder.

Inheritance:

Prolidase deficiency follows an autosomal recessive inheritance pattern. This means that both copies of the responsible gene in each cell must carry a mutation for the condition to develop. Individuals with only one copy of the mutated gene are carriers, typically showing no symptoms themselves, but can pass the gene on to their children.