Professional Documents
Culture Documents
Background Alkaptonuria (AKU) is the first genetic metabolic disorder following an autosomal recessive pattern of inheritance, identified by Sir Achibald
Edward Garrod (1). It is caused by a mutation in the HGD gene coding for the enzyme homogentisate 1,2-dioxygenase (E.C:1.13.11.5). The natural substrate of
the enzyme, the homogentisic acid, is then accumulated in the blood and tissues, oxidated in a form called alkapton and then partially excreted in the urine,
giving it an unusually dark color after it is exposed to the air. The excess of homogentisic acid causes damages to connective tissues with dramatic
consequences as osteoarthritis and heart valves problems, with subsequent joint and valves replacement, stones in kidney and other organs are affected too.
Usually symptoms develop in people after the third decade of age, and this make the disorder undervalued even though the dark discoloration of the urine is
present from birth. AKU is a very rare disease, since its prevalence is 1-9/1 000 000 (Orphanet) and, at the moment, without a definite cure.
Objectives To evaluate the age at which AKU patients have been diagnosed, since on the basis of our experience the highest number of the adults received
the exact diagnosis of AKU only late in age, after a long way looking for a resolution of their pain problems.
Methods To evaluate the age at which AKU patients have been diagnosed, since on the basis of our experience the highest number of the adults received the
exact diagnosis of AKU only late in age, after a long way looking for a resolution of their pain problems.
Results The mean age of the patient was 50.1±17.3. Only 5 of them were diagnosed at the birth, the majority of the others (15) received the diagnosis
between 40 and 58 years. The earliest diagnosis dates back to 1971, and in total 11 patients were diagnosed up to 1996, while 13 of them were diagnosed
between 2004 and 2014. Apart from the mother's curiosity about the darkness of nappies which, however, did not always lead to a quick resolution, the
physical difficulties leading patients to the diagnosis were different, but often due to rheumatic and orthopedic problems (back pain, arthroscopy, junction
replacement, etc).
Conclusions Although the age of the diagnosis is decreased in the new century, too many people suffer without knowing to be affected by AKU. We hope the
rheumatologists will play attention in considering AKU in their diagnosis and share the information with their colleagues like pediatricians, orthopedists, etc.
References
1. A.B. Garrod The Incidence of Alkaptonuria: a Study in Chemical Individuality Lancet, vol ii, pag. 1616-1620, 1902.
http://dx.doi.org/10.1136/annrheumdis-2015-eular.4759
Request Permissions
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will
be able to get a quick price and instant permission to reuse the content in many different ways.
Request permissions
Store and/or access information on a device, Personalised ads and content, ad and content measurement, audience insights and product development, Use precise geolocation
data, Actively scan device characteristics for identification
List of Partners (vendors)
I Accept
Show Purposes
Consultant in Rheumatology
Steeton £88,364 to £119,133 a year per annum
Our high performing Hospital is led by people who believe that a fantastic quality of life can go hand-in-hand with progressive working practices.
Recruiter: Airedale NHS Foundation Trust
Apply for this job
Rheumatology Consultant
Kettering £84,559 to £114,003 a year Per annum
This post is for a full time Consultant Rheumatologist appointment at Kettering General Hospital NHS Foundation Trust.
Recruiter: Kettering General Hospital NHS Foundation Trust
Apply for this job
Consultant in Rheumatology
Rotherham £88,364 to £119,133 a year
Pleased to offer the opportunity for an enthusiastic Consultant Rheumatologist with well-rounded training to join an existing & well establisment.
Recruiter: Rotherham NHS Foundation Trust
Apply for this job
Rheumatology Consultant
Birmingham, West Midlands
Applications are invited for an enthusiastic Consultant Rheumatologist to join our busy Rheumatology Department at the University Hospitals Birming...
Recruiter: University Hospitals Birmingham NHS Foundation Trust
Apply for this job
Painted black
P G M Maathuis et al., Ann Rheum Dis, 2002
Clinical characteristics and post-discharge follow-up analyses of 10 infants with congenital tuberculosis: A retrospective observational study
JOURNAL
About
Editorial board
Sign up for email alerts
Subscribe
EULAR textbooks
Thank you to our reviewers
AUTHORS
HELP
Contact us
Reprints
Permissions
Advertising
Feedback form
Store and/or access information on a device, Personalised ads and content, ad and content measurement, audience insights and product development, Use precise geolocation
data, Actively scan device characteristics for identification
List of Partners (vendors)