What is Carnosinemia

Carnosinemia is a rare genetic disorder characterized by the accumulation of an amino acid called carnosine in the body. Carnosine is typically found in high concentrations in the muscles and brain. In individuals with carnosinemia, the enzyme responsible for breaking down carnosine is either missing or not functioning properly.

Excess carnosine can lead to various symptoms and health issues. Infants with carnosinemia may experience developmental delays, intellectual disability, and seizures. They may also exhibit low muscle tone and have difficulty with motor skills. In some cases, affected individuals may have an unusual body odor.

Diagnosis of carnosinemia is typically made through genetic testing, which can identify mutations in the gene responsible for producing the enzyme. Treatment options for carnosinemia are limited, and management mainly focuses on alleviating symptoms and providing supportive care.

As carnosinemia is a rare condition, it is important for affected individuals and their families to consult with healthcare professionals who specialize in metabolic disorders for appropriate guidance and support.