As of March 2020, only 50 cases of CMRD have been documented in the medical literature. This small number speaks to the rarity of the disease as well as the lack of thorough research and documentation. As a result, the full course of the disease, life expectancy, and mortality are also poorly documented. Clinical manifestation of CMRD symptoms begin during infancy and early childhood but may go undetected due to the non-specific symptoms associated with the disease. Many of these symptoms can be attributed to malnutrition and nonspecific postnatal diarrhea, confounding early diagnosis. Careful regulation of diet and nutrition are required for management of CMRD since the disease results from the poor absorption of nutrients from food.
Chylomicron retention disease
Lysinuric protein intolerance
Inborn errors of carbohydrate metabolism
Acid lipase disease
Hereditary fructose intolerance
Glucose-galactose malabsorption
Glycogen storage disease type 0
Congenital chloride diarrhea