3 Αποτελέσματα
Alkaptonuria (ochronosis) is a rare autosomal recessive disorder featuring a genetic error in the amino acid metabolism. A defect in the tyrosine metabolism results in the accumulation and deposition of homogentisic acid in connective tissue, causing a blue-black discolouration. Degenerative
Although commonly detected early in life, alkaptonuria, a rare congenital metabolic disorder, can be challenging to diagnosis and treat in older patients.
METHODS
A 70-year-old deaf-mute women suffered from progressive chronic pain of the right hip joint caused by destructive osteoarthritis of the hip.
METHODS
In addition to painfully restricted range of motion of the right hip joint the clinical examination showed a bluish-black pigmentation of the