Results 1 to 10 of about 7,435 (127)

Ochronotic Chronic Tendoachilles Rupture Management: A Case Series [PDF]

Journal of Foot and Ankle Surgery (Asia Pacific)
Background: Alkaptonuria is a rare inherited genetic disorder in which there is a deficiency of the enzyme homogentisate 1,2-dioxygenase. The three characteristics of alkaptonuria are homogentisic-aciduria, ochronosis, and ochronotic arthropathy ...
Jeremy B Dorai, Issac Jebaraj
doaj   +2 more sources

Total Knee Arthroplasty in Alkaptonuric Ochronosis: the First Case Report in Thailand and Literature Review

Siriraj Medical Journal, 2016
Ochronosis is a musculoskeletal manifestation found in alkaptonuria which is a rare autosomal recessive disorder caused by the deficiency of homogentistic acid oxidase enzyme. This leads to accumulation and deposition of homogentistic acid (HGA) pigments
Witchuree Wejjakul, Anuwat Pongkunakorn
doaj   +3 more sources

Alkaptonuria and Ochronotic Arthropathy: The Path to Pain-Free Mobility

Case Reports in Clinical Practice
This article discusses a case of ochronotic arthropathy, a manifestation of alkaptonuria. Alkaptonuria is characterized by the accumulation of homogentisic acid [HGA] in tissues, leading to a distinctive blue-black pigmentation and early joint ...
Mohammad Poursalehian, Mohammadreza Barzegar, Mohammadreza Razzaghof, Seyed Mohammad Javad Mortazavi   +3 more
doaj   +1 more source

Ochronotic arthropathy of the hip with multiple joint involvement: a rare case report and literature review [PDF]

The Egyptian Orthopaedic Journal
Ochronosis is a rare inherited genetic disorder that affects tyrosine and phenylalanine metabolism. It leads to the deposition of dark pigments in connective tissues and articular cartilage, which are rich in collagen.
Plaban N. Chowdhury, Abhishek Vaish, Pankaj Baweja, Raju Vaishya   +3 more
doaj   +1 more source

Total knee arthroplasty in ochronosis

Arthroplasty Today, 2015
Alkaptonuria is disorder of tyrosine metabolism due to deficiency of homogentisic oxidase characterized by excretion of homogentisic acid in urine, deposition of oxidized homogensitate pigments in connective tissues and articular cartilages (ochronosis).
Vaibhav G. Patel, MBBS
doaj   +1 more source

Demographic, Phenotypic and Genotypic Features of Alkaptonuria Patients: A Single Centre Experience

Journal of Pediatric Research, 2018
Aim:Alkaptonuria (AKU) is an autosomal recessively inherited disease caused by a deficiency of homogentisate 1,2-dioxygenase. This enzyme converts homogentisic acid (HGA) into maleylacetoacetic acid in the tyrosine degradation pathway.
Sebile Kılavuz, Fatma Derya Bulut, Deniz Kör, Berna Şeker Yılmaz, Sibel Başaran, Tunay Sarpel, Neslihan Önenli Mungan   +6 more
doaj   +1 more source

Total Hip Arthroplasty in Ochronotic Arthropathy: A Case Report. [PDF]

J Orthop Case Rep, 2023
Bhattacharjee S, Ahlawat A, Prasad A, Das RK.   +3 more
europepmc   +1 more source

Ochronosis of the Lumbar Spine: A Case Report and Review of Literature

Journal of Clinical and Diagnostic Research
Alkaptonuria is an uncommon genetic condition inherited in an autosomal recessive pattern, characterised by a disruption in the metabolism of phenylalanine and tyrosine, leading to insufficient levels of the enzyme homogentisate and further causes a ...
Abraham Aleyas, B Vijay Anand, Rishab Chandraprakash, Anooj Pravin Chheda, Ashwin Mathew Kadavil   +4 more
doaj   +1 more source

Ochronotic arthropathy of bilateral hip joints: A case report. [PDF]

World J Clin Cases, 2023
Yap San Min N, Rafi U, Wang J, He B, Fan L.   +4 more
europepmc   +1 more source

A clinical case of ochronosis with involvement of the cardiac valvular apparatus and the musculoskeletal system in an 80-year-old patient

КардиоСоматика
BACKGROUND: Ochronosis is a rare disorder caused by an inherited defect in tyrosine metabolism, in which the biochemical degradation pathway is interrupted at the stage of homogentisic acid formation.
Amina M. Alieva, Irina V. Kovtyukh, Irina E. Baykova, Elvira A. Khachirova, Albina B. Sultangalieva, Alexander A. Melnikov, Igor G. Nikitin   +6 more
doaj   +1 more source