SNP Shot: Genomic Insights

Lysinuric protein intolerance (LPI) is a condition where the body struggles to process and utilize specific amino acids, the building blocks of protein. Specifically, LPI affects the absorption of lysine, arginine, and ornithine. This malabsorption, common when eating protein-rich foods, often results in nausea and vomiting.

Individuals with LPI can exhibit a range of symptoms. These may include an enlarged liver and spleen (hepatosplenomegaly), reduced growth resulting in short stature, muscle weakness, a weakened immune system, and fragile bones prone to fractures (osteoporosis). Furthermore, they are at risk for pulmonary alveolar proteinosis, a lung disease where protein buildup impairs lung function and can be life-threatening. Accumulation of amino acids in the kidneys can lead to end-stage renal disease (ESRD), a condition where the kidneys fail to properly filter waste. Conversely, insufficient levels of certain amino acids can cause a buildup of ammonia in the bloodstream, potentially leading to coma and intellectual disability if ammonia levels remain elevated for an extended period.

The symptoms of lysinuric protein intolerance usually become noticeable in infants after they are weaned from breast milk or formula and start consuming solid foods with higher protein content.

Inheritance:

LPI is inherited through an autosomal recessive pattern. This means that an individual must inherit a mutated copy of the responsible gene from both parents to develop the condition. While each parent carries one copy of the altered gene, they generally do not exhibit any signs or symptoms of the disorder themselves.