Alkaptonuria Presenting with Back Pain: A Diagnostic Dilemma

Authors

Arnav Salar, JSS MEDICAL COLLEGE, JSS ACADEMY OF HIGHER EDUCATION AND RESEARCH, MYSURUFollow
Dyuksha Arora, JSS MEDICAL COLLEGE, JSS ACADEMY OF HIGHER EDUCATION AND RESEARCH, MYSURUFollow
MAHABALESHWAR MAMADAPUR, Department of Clinical Immunology and Rheumatology, JSS Medical College and Hsopital, JSS Academy of Higher Education and ReseachFollow

Author ORCID Identifier

https://orcid.org/0000-0001-7421-2418

Corresponding Author

Mahabaleshwar Mamadapur,
Email: Email:mahabaleshwarm@jssuni.edu.in

Abstract

Alkaptonuria is a rare inborn error of metabolism due to a deficiency of homogentisate 1,2 dioxygenase, resulting in homogentisic acid accumulation in tissues. It is characterised by homogentisic aciduria, ochronosis, and arthritis. We hereby discuss a 46-year-old male who presented with progressive lower back pain and polyarthralgia for ten years, initially diagnosed as ankylosing spondylitis. Characteristic skin pigmentation, ochronosis, and radiological findings led to the correct diagnosis of alkaptonuria. This case highlights the importance of considering alkaptonuria as a differential diagnosis for chronic back pain and arthritis, mainly when sacroiliac joints are spared, and ochronosis is present. While no cure exists, early diagnosis allows for potential management strategies to reduce homogentisic acid accumulation and alleviate symptoms.

Publication Date

2024

Publisher

JSS Academy of Higher Education & Research

Conflict of Interest

None

Keywords

4-hydroxyphenylpyruvic acid, Phenylalanine, Exome Sequencing, Ascorbic acidTyrosine

Word Count

1001

Recommended Citation

Salar A, Arora D, MAMADAPUR M. Alkaptonuria Presenting with Back Pain: A Diagnostic Dilemma. Digital Journal of Clinical Medicine. 2024; 6(4): -. doi: https://doi.org/10.55691/2582-3868.1219

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