Day: October 24, 2025

Diseases and Conditions, Home

Alkaptonuria arthropathy

Alkaptonuria arthropathy is a joint condition that develops in individuals with Alkaptonuria, a rare metabolic disorder. In this condition, excess homogentisic acid accumulates and deposits in joint cartilage and connective tissues, leading to pigmentation, cartilage degeneration, and chronic arthritic changes. Over time, this process results in joint pain, stiffness, and impaired function. Pathophysiology In alkaptonuria, the enzyme that normally breaks down homogentisic acid is deficient. … Continue reading Alkaptonuria arthropathy

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Diseases and Conditions, Home

Albers-Schönberg disease

Albers-Schönberg disease, also known as adult autosomal dominant osteopetrosis or marble bone disease, is a hereditary disorder characterised by increased bone density throughout the skeleton. Although the bones appear markedly dense on imaging, their structure is abnormal, and they may be brittle, leading to fractures, bone pain, and complications related to the excessive bone mass. Early recognition and management of complications are important to preserve … Continue reading Albers-Schönberg disease

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