hepatolenticular degeneration
hepatolenticular disease

He is credited with providing an early diagnosis of "pseudosclerosis", a disease known today as hepatolenticular degeneration.

He described hepatolenticular degeneration in his Gold Medal winning M.D. dissertation of 1912 titled "Progressive lenticular degeneration".

Wilson's disease or hepatolenticular degeneration is an autosomal recessive genetic disorder in which copper accumulates in tissues; this manifests as neurological or psychiatric symptoms and liver disease.

Frerichs gave the first clinical description of progressive familial hepatolenticular degeneration (now known as Wilson's disease), and also discovered the presence of leucine and tyrosine in urine involving yellow atrophy of the liver.

Blue nails, or more formally azure lunula, are characterized by a blue discoloration of the lunulae, seen in argyria and cases of hepatolenticular degeneration (Wilson's disease), also having been reported in hemoglobin M disease and hereditary acrolabial telangiectases.