Living with alkaptonuria

Alkaptonuria.

Alkaptonuria (AKU) is a rare disorder of autosomal recessive inheritance. It is caused by a mutation in a gene that results in the accumulation of homogentisic acid (HGA). Characteristically, the excess HGA means sufferers pass dark urine, which upon standing turns black. This is a feature present from birth. Over time patients develop other manifestations of AKU, due to deposition of HGA in co...

Alkaptonuria: a disease with dark brown urine.

False proteinuria in patients with alkaptonuria.

False proteinuria in patients with alkaptonuria Sirs, Alkaptonuria (AKU) is a rare autosomal re-cessive disorder characterised by the inability to metabolise homogentisic acid (HGA). In the absence of HGA oxidase, HGA is rapidly oxidised to benzoquinone acetic acid, which polymerises to a melanin-like pigment and deposits in connective tissue. Mus-culoskeletal involvement (ochronosis) is the mo...

Spontaneous tendon ruptures in alkaptonuria.

Ochronosis, the musculoskeletal manifestation of alkaptonuria, is known to lead to degenerative changes of the spine and weight-bearing joints. Symptoms related to degeneration of tendons or ligaments with spontaneous ruptures have not previously been reported. Three patients are described with four spontaneous ruptures of either the patellar tendon or tendo Achillis as the first symptom of alk...

Simple colour reaction for alkaptonuria.