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QJM : Monthly Journal of the... May 2019
Topics: Aged; Alkaptonuria; Arthritis; Conjunctiva; Face; Female; Humans; Knee; Radiography; Skin Pigmentation
PubMed: 30476261
DOI: 10.1093/qjmed/hcy268 -
Journal of Neurological Surgery. Part... Mar 2019Alkaptonuria is a rare metabolic disease caused by deficiency of homogentisic acid oxidase and characterized by bluish-black discoloration of cartilages and skin...
Alkaptonuria is a rare metabolic disease caused by deficiency of homogentisic acid oxidase and characterized by bluish-black discoloration of cartilages and skin (ochronosis). Defective production of this enzyme results in the accumulation of homogentisic acid (HGA), a tyrosine degradation product, in the bloodstream. Accumulation of HGA and its metabolites in tissues causes ochronosis. The word refers to the dark bluish-black discoloration of connective tissues including the sclera, cornea, auricular cartilage, heart valves, articular cartilage, tendons, and ligaments. Neurogenic claudication resulting from focal hypertrophy of the ligamentum flavum in the lumbar spine due to ochronotic deposits has only been previously reported once in the literature. In this article, we present a 71-year-old male patient with alkaptonuria-associated degenerative L3-L4-L5 stenosis, diagnosed after lumbar decompressive laminectomy.
Topics: Aged; Alkaptonuria; Humans; Ligamentum Flavum; Lumbar Vertebrae; Male; Ochronosis
PubMed: 30477028
DOI: 10.1055/s-0038-1675784 -
Molecular Genetics and Metabolism Jul 2023A 6-yr-old female orangutan presented with a history of dark urine that turned brown upon standing since birth. Repeated routine urinalysis and urine culture were...
A 6-yr-old female orangutan presented with a history of dark urine that turned brown upon standing since birth. Repeated routine urinalysis and urine culture were unremarkable. Urine organic acid analysis showed elevation in homogentisic acid consistent with alkaptonuria. Sequence analysis identified a homozygous missense variant, c.1081G>A (p.Gly361Arg), of the homogentisate 1,2-dioxygenase (HGD) gene. Familial studies, molecular modeling, and comparison to human variant databases support this variant as the underlying cause of alkaptonuria in this orangutan. This is the first report of molecular confirmation of alkaptonuria in a nonhuman primate.
Topics: Animals; Humans; Female; Alkaptonuria; Pongo abelii; Homogentisic Acid; Mutation, Missense; Homozygote
PubMed: 37354891
DOI: 10.1016/j.ymgme.2023.107628 -
BMJ Case Reports Dec 2021Alkaptonuria (AKU) is a rare autosomal recessive disorder with a global incidence of 1 in 250 000 to 1 million people worldwide. It results from a deficiency of the...
Alkaptonuria (AKU) is a rare autosomal recessive disorder with a global incidence of 1 in 250 000 to 1 million people worldwide. It results from a deficiency of the enzyme homogentisic acid (HGA) oxidase which when absent, leads to an accumulation of HGA. Without this enzymatic degradation, HGA deposits in connective tissues resulting in pigmentation (ochronosis), plaque formation and accelerated cartilage destruction. With this, many patients who suffer from AKU develop ochronotic arthropathies, tendon ruptures, fractures, and chronic joint pain. Similarly, patients can develop cardiac valvular dysfunction and interstitial renal disease. Our two cases highlight the array of pathologies seen in AKU and, in light of newly published research, give us a platform from which we can discuss the developments in management of this rare disease.
Topics: Alkaptonuria; Cartilage, Articular; Homogentisic Acid; Humans; Ochronosis; Rare Diseases
PubMed: 34876442
DOI: 10.1136/bcr-2021-244240 -
Der Unfallchirurg Nov 2019This article presents the case of a 53-year-old male patient born in Sri Lanka, who presented to the outpatient unit with the suspicion of empyema of the knee joint....
This article presents the case of a 53-year-old male patient born in Sri Lanka, who presented to the outpatient unit with the suspicion of empyema of the knee joint. Within the framework of knee arthroscopy, the diagnosis of ochronosis was made and later confirmed by histopathological biopsy. The alkaptonuria is caused by a homogentisate 1,2-dioxygenase deficiency and leads to an accumulation of homogentisic acid, a degradation product of tyrosine. This leads to the characteristic appearance of ochronosis with bluish-black deposits in the tissue (e.g. in connective tissue, sclera and ear cartilage) and a black coloration of the urine.
Topics: Alkaptonuria; Arthroscopy; Biopsy; Humans; Knee Joint; Male; Middle Aged; Ochronosis
PubMed: 31332451
DOI: 10.1007/s00113-019-0700-2 -
The Journal of Dermatology Mar 2001Alkaptonuria is a rare, autosomally recessive, metabolic disorder caused by a deficiency in homogentisic acid oxidase. It results in accumulation and deposition of...
Alkaptonuria is a rare, autosomally recessive, metabolic disorder caused by a deficiency in homogentisic acid oxidase. It results in accumulation and deposition of homogentisic acid in cartilage, eyelids, forehead, cheeks, axillae, genital regions, nail beds, buccal mucosa, larynx, tympanic eardrum, and the tendons. We report a 33-year-old woman who presented with alkaptonuria and ochronotic pigment deposited in articular cartilage and cartilage of the ear and sclera.
Topics: Adult; Alkaptonuria; Calcinosis; Diagnosis, Differential; Ear Cartilage; Female; Humans; Ochronosis; Radiography; Spinal Diseases
PubMed: 11349468
DOI: 10.1111/j.1346-8138.2001.tb00111.x -
Postgraduate Medical Journal Oct 2016
Topics: Alkaptonuria; Calcinosis; Humans; Intervertebral Disc; Male; Middle Aged; Ochronosis; Radiography; Scleral Diseases; Spinal Diseases
PubMed: 27197586
DOI: 10.1136/postgradmedj-2016-134174 -
BMJ Case Reports Jul 2011Alkaptonuric ochronosis is a heritable disorder of tyrosine metabolism, with various systemic abnormalities related to pigment deposition and degeneration of collagen... (Review)
Review
Alkaptonuric ochronosis is a heritable disorder of tyrosine metabolism, with various systemic abnormalities related to pigment deposition and degeneration of collagen and other tissues, including the heart and aorta. A 65-year-old woman with alkaptonuric ochronosis and a history of four joint replacements required aortic valve replacement for severe aortic stenosis. Operative findings included ochronosis of a partly calcified aortic valve and the aortic intima. The aortic valve was removed at surgery and histologically investigated. Light microscopic examination of the aortic valve revealed intracellular and extracellular deposits of ochronotic pigment and a chronic inflammatory infiltrate. Beside the case representation, the disease history, aetiology, pathogenesis, clinical presentation and treatment of aortic valve ochronosis are reviewed.
Topics: Aged; Alkaptonuria; Aortic Valve; Diagnosis, Differential; Female; Heart Valve Diseases; Humans; Ochronosis
PubMed: 22689837
DOI: 10.1136/bcr.04.2011.4119 -
The Annals of Thoracic Surgery Dec 2019Alkaptonuria, a rare disorder of homogentisic acid metabolism, can lead to aortic valvular calcification and stenosis. This report describes the case of a 71-year-old...
Alkaptonuria, a rare disorder of homogentisic acid metabolism, can lead to aortic valvular calcification and stenosis. This report describes the case of a 71-year-old woman with alkaptonuria-associated aortic stenosis in whom minimally invasive surgical aortic valve replacement was attempted but abandoned because of extensive aortic root calcification. She subsequently underwent transfemoral transcatheter aortic valve replacement with an Edwards SAPIEN 3 valve (Edwards Lifesciences, Irvine, CA). This report of transcatheter aortic valve replacement for treating alkaptonuria-associated aortic stenosis expands the potential treatment options for these patients.
Topics: Aged; Alkaptonuria; Aortic Valve; Aortic Valve Stenosis; Calcinosis; Cardiac Catheterization; Echocardiography; Female; Follow-Up Studies; Humans; Patient Safety; Severity of Illness Index; Transcatheter Aortic Valve Replacement; Treatment Outcome
PubMed: 31181205
DOI: 10.1016/j.athoracsur.2019.04.053 -
The American Journal of the Medical... Apr 2023The aim of the current study was to determine whether there is an association between alkaptonuria (AKU) and urinary tract infection (UTI) by exploring the bacterial...
BACKGROUND
The aim of the current study was to determine whether there is an association between alkaptonuria (AKU) and urinary tract infection (UTI) by exploring the bacterial quality of the urinary tract, as most of the patients with AKU present with frequent occurrence of urinary tract symptoms such as incomplete emptying of urinary bladder, dysuria and nocturia.
METHODS
Study samples were collected from 22 participants; 9 from patients with AKU, 9 from individuals who were AKU carriers, and 4 people served as control. Confirmation of AKU diagnosis was established by the ferric chloride test and quantitative determination of urinary homogentisic acid (HGA) levels.
RESULTS
In the ferric chloride test, the urine samples of AKU patients showed a characteristic black ring upon addition of few drops of ferric chloride solution. During urinary HGA determination, patients with AKU had increased levels of urinary HGA as compared to carriers and controls. The following 10 bacterial species were isolated from the urinary tract of AKU patients, carriers and controls: Sphingomonas paucimobilis, Escherichia coli, Francisella tularensis, Staphylococcus hominis, Staphylococcus haemolyticus, Leuconostoc mesenteroides, Dermacoccus nishinomiyaensis, Kytococcus sedentarius, Serratia fonticola and Granulicatella adiacens. The presence of S. paucimobilis was found in three male patients, and one female each from the carrier and control groups. Almost all study samples were positive for D. nishinomiyaensis and K. sedentarius. S. fonticola and G. adiacens were found only in AKU carrier females.
CONCLUSIONS
The results deduced that males show symptoms of arthritis early and more severely than females and by this it appears that there is an association between these symptoms and the percentage of bacterial infection in males that requires more accurate diagnosis and treatment to clarify such relationship. In the current study, males (patients, carriers, and controls) were more likely to have bacterial infections than females (64% vs. 36%). The 16 and 2 bacterial isolates, detected in 7 males and 2 females AKU patients, respectively, revealed that male AKU patients had a 2.3-fold greater rate of bacterial infection than female AKU patients. Therefore, further studies are warranted to investigate if there's any relationship between higher incidence of bacterial infections and development of AKU-related clinical symptoms in the male population.
Topics: Humans; Male; Female; Alkaptonuria; Arthritis; Homogentisic Acid; Urinary Tract
PubMed: 36608845
DOI: 10.1016/j.amjms.2022.12.028