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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| Principais autores: | , |
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| Format: | Artigo |
| Sprog: | Inglês |
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Bioscientifica
2025-09-01
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| Serier: | Endocrinology, Diabetes & Metabolism Case Reports |
| Fag: | |
| Online adgang: | https://edm.bioscientifica.com/view/journals/edm/2025/3/EDM-25-0071.xml |
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