SNP Shot: Genomic Insights

Chylomicron retention disease is a genetic condition passed down through families that disrupts the body's ability to properly absorb fats, cholesterol, and specific vitamins from the diet. The main symptoms of this disease impact the digestive system and the nervous system.

The onset of chylomicron retention disease usually occurs in infancy or early childhood. Children with this condition typically experience poor growth and difficulty gaining weight, persistent diarrhea, and stools that have a strong, unpleasant odor (steatorrhea). They also have abnormally low cholesterol levels in their blood (hypocholesterolemia). Some individuals may develop fatty deposits in the liver, known as hepatic stenosis, and may have an enlarged liver.

Additional symptoms affecting the nervous system can appear later in childhood. These may include reduced reflexes (hyporeflexia) and a diminished sense of vibration. In rare instances, individuals with chylomicron retention disease may have heart problems or muscle atrophy (amyotrophy).

Inheritance:

Chylomicron retention disease follows an autosomal recessive inheritance pattern. This means that an individual must inherit two copies of a mutated gene, one from each parent, to develop the condition. The parents, who each carry only one copy of the mutated gene, usually do not exhibit any signs or symptoms of the disease.