Combined alkaptonuria and osteoporosis contributing to chronic back pain

Alkaptonuria is a rare autosomal recessive metabolic disorder caused by a deficiency in homogentisate 1,2-dioxygenase (HGD), leading to the accumulation of homogentisic acid (HGA) in connective tissues, cartilage, and bones. This accumulation results in multisystem involvement, including early-onset...

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Bibliographic Details

Published in:	Endocrinology, Diabetes & Metabolism Case Reports
Main Authors:	Anna Riegler, Gurpreet Anand
Format:	Article
Language:	English
Published:	Bioscientifica 2025-09-01
Subjects:	alkaptonuria osteoporosis bone rare diseases/syndromes metabolism
Online Access:	https://edm.bioscientifica.com/view/journals/edm/2025/3/EDM-25-0071.xml