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An overview of Alkaptonuria (AKU) or 'black bone disease'

Last Reviewed: 10/03/2025
AnoverviewofAlkaptonuriaAKUorblackb

Course

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This module provides a review of alkaptonuria (AKU) or ‘black bone disease’, including the signs, symptoms, diagnosis and management of the condition.

Who is this resource for?

Explains what the component is for

This resource is aimed at nurses and nursing support workers across all settings and levels of practice, including students of health, social work and care professions.

Course information

This module aims to provide an overview of AKU in adults and children and offer insights into the presentation of people with the condition, the effects it has on those diagnosed, and the physical and psychological issues that nurses and the multidisciplinary team should address in managing the care and treatment of those with this condition. The time out activities are intended to supplement the module and further readers' understanding of this rare genetic disease that is currently incurable.Don't forget that you do not have to complete our two-hour learning modules all in one go. Tailor your learning to fit into your busy schedule by undertaking one or two sections at a time. You can stop and save your learning at any point and pick up where you left off when you return. Learning aims and intended outcomes Explain the metabolic pathway that leads to AKU Describe the signs and symptoms that might indicate a diagnosis of AKU or that may lead to a delay in diagnosis Discuss the impact of AKU on the quality of life of patients, their family and carers Identify and describe the referral pathway, locally, to the UK's National Alkaptonuria Centre (NAC) in Liverpool and consider any wider support if working overseas Outline the principles of current management and pharmacological treatment of patients with this long-term conditionDisclaimer Please note that information provided by RCNi Learning is not sufficient to ensure competence in the skill. Assessment of competence should take place in line with local practice. Practice should always align with local protocols and procedures, latest guidelines and any regulatory code. All modules should currently be viewed together with available national and local Covid-19 guidelines. For advice, go to www.rcn.org.uk/covid-19

Authors

Emily Luangrath

Metabolic medicine specialist nurse, Liverpool University Hospital Trust

Helen Bygott

Metabolic medicine specialist nurse, Liverpool University Hospital Trust

Lesley Harrison

Head of patient support and welfare, AKU Society, Cambridge.

The RCN delivers quality-assured and up-to-date resources for the nursing workforce. Reviewed annually, RCN Learn resources meet the RCN Nine Quality Standards.

: 14 Mar 2025.
 https://uatlearnamber.rcn.org.uk/Search/537-anoverviewofalkaptonuriaakuorblackb.
Last Reviewed: 10/03/2025