Canavan

Canavan may refer to a surname of Irish origin or to Canavan disease, a rare inherited condition that affects the nervous system.

As a surname, Canavan is found among people of Irish descent and in Ireland. It is one of several Gaelic-origin surnames that have spread through migration and diasporas. The name is borne by individuals in diverse professions, and spelling can vary in different regions and families.

Canavan disease is a rare autosomal recessive neurodegenerative disorder caused by mutations in the ASPA gene, which encodes the enzyme aspartoacylase. Deficiency of this enzyme leads to the accumulation of N-acetylaspartic acid in the brain, resulting in severe neurological symptoms. The condition typically emerges in infancy, with hypotonia (low muscle tone), feeding difficulties, rapid head growth (macrocephaly), seizures, and profound developmental delay. Diagnosis is established through genetic testing for ASPA mutations and by measuring elevated N-acetylaspartic acid in body fluids or via brain MR spectroscopy. There is no cure; treatment focuses on supportive care and management of symptoms. Research and clinical trials are exploring gene therapy and other approaches, but these are not standard treatments at present.

See also: ASPA gene, neurogenetic disorders.