Ketheptoses

Ketheptoses are a group of rare, often fatal, genetic disorders characterized by the accumulation of ketones in the blood and urine. These disorders are caused by mutations in genes that encode enzymes involved in the metabolism of ketones. The most common form of ketheptosis is ketosis-prone diabetes, which is an autosomal recessive disorder affecting infants and young children. Symptoms of ketheptoses include vomiting, abdominal pain, lethargy, and in severe cases, coma and death. Diagnosis is typically made through blood tests that measure ketone levels and genetic testing to identify mutations in the relevant genes. Treatment focuses on managing symptoms and preventing complications, often involving dietary modifications, insulin therapy, and in some cases, ketogenic diets. The prognosis for individuals with ketheptoses varies widely depending on the specific disorder and the effectiveness of treatment.