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Abstract
Introduction: Alkaptonuria (OMIM 203500) is an iconic autosomal recessive disease present at birth. The clinical effects are due to high circulating homogentisic acid (HGA) and high urine HGA. Oxidative conversion of circulating HGA to pigment is termed ochronosis, a process that alters tissues, resulting in the classical clinical consequences of the disease. There are very few symptoms in early life and very little is known about disease progression in childhood.
Areas covered: These include commonly used diagnostic tools that can be employed to document often unrecognised manifestations including structured interview, questionnaires, physical examination and investigation. Analysis of data from systematic use of diagnostic tools can allow estimation of burden of disease as well as the evolution of disease.
Expert opinion: In a condition still considered to be mainly irreversible, earlier recognition and management is desirable. This requires an urgent understanding of evolution of disease especially in the young.
Declaration of interest
The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.
Notes
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