Inborn metabolic diseases (IMD) are rare conditions that can be diagnosed during
adulthood. Patients with IMD may have joint symptoms and the challenge is to establish an …

Interventions: The patient underwent transforaminal lumbar interbody fusion surgery at L4/5
and L5/S1. Intraoperatively, the resected disk material was black, with darkened …

Alkaptonuria is a rare hereditary disease with a defective enzyme that results in increased
homogentisic acid levels in the body. Homogentisic acid accumulates in multiple body parts …

Alkaptonuria is an inborn error of metabolism inherited as an autosomal recessive disorder
due to a mutation in the homogentisic acid dioxygenase gene. It occurs rarely (global …

Alkaptonuria is a rare genetic disorder characterized by the excessive production of
homogentisic acid, leading to the formation and deposition of pigment polymers throughout …

Conclusion: The application of a DMC in THA for patients with ochronotic arthropathy has
shown promising outcomes. The DMC offers increased range of motion and improved …

Background: Alkaptonuria is a rare metabolic autosomal recessive disorder. Its aetiology
involves homogentisate 1, 2 dioxygenase (HGD) deficiency resulting in homogentisic acid …