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1.
Article | IMSEAR | ID: sea-222328

ABSTRACT

This is a case report of a 53-year-old female patient who presented with long-standing hip pain secondary to avascular necrosis of the hip joint. She underwent total hip replacement and her intraoperative findings raised suspicion of ochronosis and was retrospectively evaluated for alkaptonuria both clinically and through biochemical investigations to confirm the diagnosis

2.
Chinese Journal of Nephrology ; (12): 624-627, 2023.
Article in Chinese | WPRIM | ID: wpr-995027

ABSTRACT

The paper reports a rare case of alkaptonuria (AKU) with IgA nephropathy, and analyzes its clinical manifestations, imaging findings, pathological features, gene diagnosis and treatment process, so as to provide reference for the diagnosis and treatment of the disease. The clinical symptoms of the patient were mainly black urine, microscopic hematuria and proteinuria. Renal pathology showed mild mesangial hyperplasia IgA nephropathy, and renal tubular epithelial cytochrome deposition. Genetic analysis indicated that a pathogenic mutation was detected on the AKU-related homogentisate 1, 2-dioxygenase gene possibly associated with the phenotype of the patient. Genetic testing and renal pathology were effective methods to make a definite diagnosis for the case.

3.
Acta ortop. mex ; 36(6): 379-384, nov.-dic. 2022. graf
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1533535

ABSTRACT

Resumen: Introducción: la alcaptonuria es una enfermedad metabólica inusual, de herencia autosómica recesiva dada por la deficiencia de la oxidasa de HGA. Clásicamente descrita y diagnosticada sobre la tercera a cuarta década de la vida, la cual tiene afectación en ambos sexos, su impresión diagnóstica es clínica, basándose en la coloración azul/negro de las conjuntivas; sin embargo, se confirma mediante el análisis específico de la enzima en la orina, actualmente no existe un tratamiento definitivo, sólo alternativas en cuanto a lo paliativo y sintomático. Material y métodos: estudio descriptivo, observacional, de tipo serie de casos, como objetivo primario se describe la progresión de la enfermedad y su compromiso en el sistema musculoesquelético. Resultados: se presentan dos casos clínicos en mujer y hombre, los cuales ilustran: variedad clínica, avance progresivo y las alteraciones que puede generar en el sistema musculoesquelético. Conclusiones: la alcaptonuria es una enfermedad rara, la cual conlleva una artropatía secundaria severa, sin un tratamiento definitivo dirigido a tratar los síntomas, incluso en sus estadios finales los reemplazos articulares son una opción para proporcionar manejo del dolor obteniendo resultados satisfactorios.


Abstract: Introduction: alkaptonuria is a very rare metabolic disease with autosomal recessive inheritance due to HGA oxidase deficiency. Classically described and diagnosed in the third to fourth decade of life, affecting both men and women; Its diagnostic impression is clinical based on the blue/black coloration of the conjunctivae, however it is confirmed by the specific analysis of the enzyme in the urine, to date there is no cure and its treatment is palliative and symptomatic. Material and methods: descriptive, observational, case series study, the primary objective of which is to describe the progression of the disease and its involvement in the musculoskeletal system. Results: two clinical cases are presented in women and men in which the broad clinic is illustrated, its progressive advance and the different alterations that it can generate in the musculoskeletal system. Conclusions: alkaptonuria is a rare disease which leads to a severe secondary arthropathy, currently without a specific management which is based on treating the symptoms, in its final stages joint replacements are a management option with satisfactory results for the relief of pain.

4.
Japanese Journal of Cardiovascular Surgery ; : 107-110, 2019.
Article in Japanese | WPRIM | ID: wpr-738363

ABSTRACT

Alkaptonuria is a rare genetic disease, in which amino acids and tyrosine cannot be processed. A 72-year-old man with a history of aortic valve stenosis presented with coronary 3-vessel disease. Intraoperative findings included ochronosis, which is pigmentation caused by the accumulation of homogentistic acids in connective tissues, or on the severely calcified aortic valve, the intima of the aorta, and the coronary arteries. The pigmented region of the coronary arteries had significant stenosis. Aortic valve replacement and coronary artery bypass were performed. From these findings and his past history of arthritis, we diagnosed alkaptonuria. The patient had an uneventful recovery.

6.
Rev. bras. anestesiol ; 68(3): 307-310, May-June 2018. graf
Article in English | LILACS | ID: biblio-958296

ABSTRACT

Abstract The current case report describes two cases of alkaptonuric ochronosis for anesthetic management. Alkaptonuria is a rare genetic orphan disease of tyrosine metabolism characterized by an accumulation of homogentisic acid in cartilage and connective tissues. Patients present most commonly for orthopedic joint surgery due to progressive arthropathy that can be misdiagnosed many a times. However respiratory, airway, cardiovascular and genitourinary systems complications can occur with age progressing. Restricted range of motion of cervical spine may lead to difficulty with airway management. In addition, degenerative changes and stiffness of lumbar spine due to ochronosis would make neuraxial blockade challenging. Although this inherited condition is extremely rare, anesthesiologists should be aware of its existence and prepare for management of potential challenging problems. This report highlights special care and precautions that need to be taken during anesthetic management.


Resumo Este relato descreve o manejo anestésico em dois casos de ocronose alcaptonúrica. Alcaptonúria é uma doença genética rara do metabolismo de tirosina caracterizada por acúmulo de ácido homogentísico em cartilagem e tecidos conjuntivos. Os pacientes geralmente recorrem à cirurgia ortopédica devido à artropatia progressiva, que, muitas vezes, pode ser diagnosticada incorretamente. No entanto, complicações das vias respiratórias, cardiovasculares e geniturinárias podem ocorrer com o avanço da idade. A restrição de mobilidade da coluna cervical pode levar ao manejo difícil das vias aéreas. Além disso, as alterações degenerativas e a rigidez da coluna lombar devido à ocronose podem tornar o bloqueio neuroaxial um desafio. Embora essa condição hereditária seja extremamente rara, os anestesiologistas devem estar cientes de sua existência e se preparar para o manejo de potenciais problemas desafiadores. Este relato destaca os cuidados e as precauções especiais que devem ser tomadas durante o manejo anestésico.


Subject(s)
Humans , Arthroplasty, Replacement, Knee/instrumentation , Alkaptonuria/physiopathology , Anesthesia/methods , Ochronosis/physiopathology
7.
Journal of Genetic Medicine ; : 17-19, 2018.
Article in English | WPRIM | ID: wpr-715206

ABSTRACT

Alkaptonuria (AKU, OMIM: 203500) is a rare autosomal recessive disorder of tyrosine metabolism due to a defect of enzyme activity, homogentisate 1,2-dioxygenase (HGD). The patients with AKU initially presented with dark urine discoloration, and ochronosis and arthritis develop after third decades of life. With advances of Internet resources, web-based health seekers for rare disease are increasing. Here, we report the case of an 18-year-old boy with AKU who visited our center due to dark black urine based on self-diagnosis via web searching of this rare condition. Compound heterozygous mutations in HGD gene, IVS5+3A>C and IVS12+6T>C were identified and both of mutations were detected in his parents. Our case illustrates the utility of publicly available Internet resources for diagnosis of rare disease.


Subject(s)
Adolescent , Humans , Male , Alkaptonuria , Arthritis , Databases, Genetic , Diagnosis , Homogentisate 1,2-Dioxygenase , Internet , Metabolism , Ochronosis , Parents , Rare Diseases , Tyrosine
8.
Rev. AMRIGS ; 60(4): 374-376, out.-dez. 2016. ilus
Article in Portuguese | LILACS | ID: biblio-847864

ABSTRACT

A Alcaptonúria é uma doença autossômica recessiva rara caracterizada pelo acúmulo de ácido homogentísico. Denomina-se também ocronose e manifesta-se por pigmentação azulada de tecidos orgânicos e urina enegrecida, além de artropatia. A seguir, será relatado o caso de irmãos portadores de artropatia ocronótica e a conduta ortopédica (AU)


Alkaptonuria is a rare autosomal recessive disease characterized by the accumulation of homogentisic acid. It is also called ochronosis and is manifested by bluish pigmentation of organic tissues and blackened urine, besides arthropathy. Here the authors report the case of siblings with ochronotic arthropathy and the orthopedic management (AU)


Subject(s)
Humans , Male , Female , Middle Aged , Alkaptonuria/diagnosis , Alkaptonuria/genetics , Ochronosis/diagnosis , Ochronosis/genetics , Siblings , Joint Diseases/diagnosis , Joint Diseases/therapy
9.
Journal of Korean Neurosurgical Society ; : 65-68, 2016.
Article in English | WPRIM | ID: wpr-28316

ABSTRACT

Ochronosis is a musculoskeletal manifestation of alkaptonuria, a rare hereditary metabolic disorder occurs due to the absence of homogentisic acid oxidase and leading to various systemic abnormalities related to deposition of homogentisic acid pigmentation (ochronotic pigmentation). The present case reports the clinical features, radiographic findings, treatments and results of a cervical spondylotic myelopathy woman patient due to the ochronotic arthropathy of the cervical spine. The patient aged 62 years was presented with gait disturbance and hand clumsiness. Physical examination, X-rays, computed tomography and lab results of the urine sample confirmed the presence of ochronosis with the involvement of the cervical spine. The patient underwent a modified cervical laminoplasty due to multi-segment spinal cord compression. The postoperative follow-up showed a good functional outcome with patient satisfaction. The present study concludes the conditions and important diagnostic and surgical aspects of a patient. It is necessary to identify the condition clinically and if cord compression is observed, appropriate surgical interventions needs to be instituted.


Subject(s)
Female , Humans , Alkaptonuria , Follow-Up Studies , Gait , Hand , Homogentisate 1,2-Dioxygenase , Homogentisic Acid , Ochronosis , Patient Satisfaction , Physical Examination , Pigmentation , Spinal Cord Compression , Spinal Cord Diseases , Spine
10.
Rev. peru. med. exp. salud publica ; 31(4): 793-795, oct.-dic. 2014. ilus
Article in Spanish | LILACS, LIPECS, INS-PERU | ID: lil-733267

ABSTRACT

La alcaptonuria es un error innato del metabolismo causado por la deficiencia de la homogentisiato 1,2 dioxidasa (HGD), produciéndose un exceso de ácido homogentísico (HGA). Se presenta el caso de una mujer de 57 años quien, desde que nació, su orina se tornaba de color negro; desde hacía 9 años presentaba una pigmentación verdosa en los lechos ungueales que no mejoró con tratamientos antifúngicos y en los últimos 9 meses presentó artrosis de articulaciones grandes que fue empeorando, forzándola a usar una silla de ruedas por el intenso dolor generado por la artrosis de caderas y columna lumbar. Por la descripción de los síntomas se le solicitó la medición de HGA en orina lo que confirmó el diagnóstico de alcaptonuria. Se sugirieron analgésicos, dieta sin productos que contuvieran tirosina y fue referida para cirugía de reemplazo de cadera. Se trata del primer reporte de caso de alcaptonuria en el Perú.


Alkaptonuria is an inborn error of metabolism caused by deficiency of homogentisate 1,2-dioxygenase (HGD) which produces an excess of homogentisic acid (HGA). A case is presented of a 57 year old woman whose urine has turned black since birth. For 9 years she presented a greenish pigmentation in her nail beds that did not improve with antifungal treatments, and in the last 9 months she showed worsening large joint osteoarthritis. This situation forced her to use a wheelchair due to the intense pain caused by osteoarthritis in her hips and lumbar spine. From the description of symptoms, her urinary HGA was measured which confirmed the diagnosis of alkaptonuria. Analgesics and a diet without tyrosine-containing products were suggested. The patient was also referred for hip replacement surgery. This is the first reported case of alkaptonuria in Peru.


Subject(s)
Humans , Female , Middle Aged , Alkaptonuria , Metabolism , Homogentisic Acid , Peru
11.
Rev. bras. ortop ; 49(6): 675-680, Nov-Dec/2014. graf
Article in English | LILACS | ID: lil-732901

ABSTRACT

Alkaptonuria is a rare metabolic disease in which a deficiency of the enzyme homogentisate dioxygenase causes an accumulation of homogentisic acid. Ochronosis consists of excessive deposition of homogentisic acid in the connective tissue and presents as a chestnut brown or black pigmentation. With aging, the accumulation of pigments from homogentisic acid in the joints causes osteoarthrosis. There is no specific treatment for the disease and the approach is symptomatic. Arthroplasty is the solution for severe cases of osteoarthrosis caused by this pathological condition and presents results comparable to those from patients with primary osteoarthrosis. Here, the case of a 67-year-old patient who underwent several arthroplasty procedures because of osteoarthrosis caused by this rare pathological condition is presented. The last surgical intervention consisted of total right knee arthroplasty...


A alcaptonúria é uma doença metabólica rara em que a deficiência da enzima ácido homogentísico-oxidase provoca uma acumulação de ácido homogentísico. A ocronose consiste na deposição excessiva de ácido homogentísico no tecido conjuntivo e apresenta-se como uma pigmentação acastanhada ou preta. Com o envelhecimento, a acumulação de pigmentos de ácido homogentísico nas articulações provoca osteoartrose. Não existe um tratamento específico para a doença e a abordagem é sintomática. A artroplastia é a solução para casos graves de osteoartrose causada poressa patologia e apresenta resultados compa-ráveis aos doentes com osteoartrose primária. Os autores apresentam o caso de um doente de 67 anos submetido a várias artroplastias, em virtude da osteoartrose causada por essa rara patologia. A última intervenção cirúrgica foi uma artroplastia total do joelho direito...


Subject(s)
Humans , Male , Aged , Alkaptonuria , Arthroplasty, Replacement, Knee , Knee , Osteoarthritis
12.
An. bras. dermatol ; 89(5): 799-801, Sep-Oct/2014. tab, graf
Article in English | LILACS | ID: lil-720794

ABSTRACT

Alkaptonuria, also called endogenous ochronosis, is a rare metabolic autosomal recessive disorder. It occurs by complete inhibition of homogentisic acid oxidase enzyme having its deposition in various tissues. Male patient, 52 years old, sought medical help complaining about progressive appearance of hyperchromic papules on the lateral edge of the second finger of both hands for 02 years. He also complained about darkening of urine, sperm and underwear. Incisional biopsy of second hand finger and test for homogentisic acid in the urine results were positive. The findings are compatible with the diagnosis of alkaptonuria. Given these findings, treatment was initiated, followed-up by other specialties and he was advised to avoid certain foods.


Subject(s)
Humans , Male , Middle Aged , Alkaptonuria/pathology , Ochronosis/pathology , Sclera/pathology , Skin/pathology , Biopsy
13.
The Journal of the Korean Orthopaedic Association ; : 389-393, 2014.
Article in Korean | WPRIM | ID: wpr-656418

ABSTRACT

In this report, a case of a black meniscus with underlying ochronosis is described. Further analysis by laboratory findings showed that the patient had underlying alkaptonuria, which was previously undiagnosed. The patient's symptoms showed improvement after arthroscopic treatment.


Subject(s)
Humans , Alkaptonuria , Arthroscopy , Knee , Ochronosis
14.
Indian J Biochem Biophys ; 2013 Oct; 50(5): 339-344
Article in English | IMSEAR | ID: sea-150243

ABSTRACT

Alkaptonuria (AKU) is a very rare autosomal recessive disorder of tyrosine metabolism in the liver due to deficiency of homogentisate 1,2 dioxygenase (HGD) activity, resulting in the accumulation of homogentisic acid (HGA). Circulating HGA pass into various tissues through-out the body, mainly in cartilage and connective tissues, where its oxidation products polymerize and deposit as a melanin-like pigment. Gram quantities of HGA are excreted in the urine. AKU is a progressive disease and the three main features, according the chronology of appearance, are: darkening of the urine at birth, then ochronosis (blue-dark pigmentation of the connective tissue) clinically visible at around 30 yrs in the ear and eye, and finally a severe ochronotic arthropathy at around 50 yrs with spine and large joints involvements. Cardiovascular and renal complications have been described in numerous case report studies. A treatment now is available in the form of a drug nitisinone, which decreases the production of HGA. The enzymatic defect in AKU is caused by the homozygous or compound heterozygous mutations within the HGD gene. This disease has a very low prevalence (1:100,000-250,000) in most of the ethnic groups, except Slovakia and Dominican Republic, where the incidence has shown increase up to 1:19,000. This review highlights classical and recent findings on this very rare disease.


Subject(s)
Alkaptonuria/complications , Alkaptonuria/genetics , Alkaptonuria/metabolism , Alkaptonuria/therapy , Homogentisic Acid/metabolism , Humans , Melanins/biosynthesis , Ochronosis/complications
15.
Indian J Hum Genet ; 2013 Apr; 19(2): 259-261
Article in English | IMSEAR | ID: sea-149438

ABSTRACT

Since the aggregate incidence of inborn errors of metabolism is relatively high, a high degree of suspicion is essential to correctly diagnose an inborn error of amino acid metabolism. We report a case of alkaptonuria an autosomal recessive disorder that occurs due to deficiency of homogentisic acid oxidasein a β-thalassemia infant presenting with reddish discoloration of nappies and clothes, breath holding spells, and microcytic hypochromic anemia. Born to consanguineous cousins, to our knowledge, the combination of β-thalassemia and alkaptonuria, which we have described in this baby, has not been reported earlier.


Subject(s)
Alkaptonuria/diagnosis , Alkaptonuria/epidemiology , Consanguinity , Homogentisate 1,2-Dioxygenase , Homogentisic Acid , Humans , Infant , Male , Urine/chemistry , beta-Thalassemia/diagnosis , beta-Thalassemia/epidemiology
16.
Asian Spine Journal ; : 148-151, 2012.
Article in English | WPRIM | ID: wpr-92974

ABSTRACT

Neurogenic claudication resulting from focal hypertrophy of the ligamentum flavum in the lumbar spine due to ochronotic deposits has not been reported till date. The authors discuss one such case highlighting the pathogenesis, histological and radiological features. Salient features of management are also emphasized upon.


Subject(s)
Alkaptonuria , Hypertrophy , Ligamentum Flavum , Spinal Stenosis , Spine
17.
Rev. colomb. reumatol ; 18(4): 304-310, oct.-dic. 2011. ilus
Article in Spanish | LILACS | ID: lil-636875

ABSTRACT

La ocronosis es la manifestación de la alcaptonuria en el tejido conjuntivo, se origina por la alteración en el metabolismo del ácido homogentísico, producto de la mutación autosómica recesiva del gen HGO, en el brazo largo del cromosoma 3 (3q21-23). Es una patología infrecuente, que se caracteriza por la presencia de calcificaciones de los discos intervertebrales y depósito de ácido homogentísico en el tejido conjuntivo y los tendones. Se presentan dos casos compatibles con las características clínicas y radiológicas de ocronosis.


Ochronosis is the manifestation of alkaptonuria in the connective tissue. It is originated by the alteration in the metabolism of homogentisic acid, a product of autosomal recessive mutation of HGO, gene in the long arm of chromosome 3 (3q21-23). It is a rare disease, characterized by the presence of calcifications in the intervertebral discs and deposit of homogentisic acid in connective tissue and tendons. We present two compatibles cases with the clinical and radiological features of ochronosis.


Subject(s)
Humans , Female , Middle Aged , Ochronosis , Connective Tissue , Alkaptonuria , Homogentisic Acid , Mutation
18.
Rev. venez. cir. ortop. traumatol ; 40(2): 22-27, dic. 2008. ilus, tab
Article in Spanish | LILACS | ID: lil-534992

ABSTRACT

La ocronosis alkaptonurica es una rara enfermedad autosómica recesiva del metabolismo de la tirosina y fenilalanina caracterizada por una triada de orinas oscura (alkaptonuria), coloración negruzca de tejidos conectivos (ocronosis) y degeneración articular en adultos jóvenes (artritis ocronotica), por deficiencia del la 1,2 dioxigenasa homogentísica, produciendo la acumulación del Ácido Homogentísico (HGA). De tratamiento poco efectivo tanto con Vitamina C como con Nitisinone, aunque este último inhibe síntesis HGA. Se hace el reporte de una paciente femenina de 53 años, con gonartrosis bilateral severa a predominio izquierdo, sin antecedentes patológicos conocidos, que durante la artroplastia se evidenciaron lesiones negruzcas en todo el cartílago articular, por lo que se tomaron muestras para anatomía patológica que reportaron lesiones sugestivas de artrítis ocronótica. Posteriomente se evidencia orinas oscuras a la exposición al aire libre, artropatía degenerativa no limitante en esqueleto axil y parentesco de consanguinidad tanto de sus abuelos como de sus padres. Se hace este reporte por ser el primer caso registrado en la literatura nacional, además de su excepcional frecuencia.


Subject(s)
Humans , Adult , Female , Arthritis/pathology , Ochronosis/surgery , Ochronosis/diagnosis , Homogentisic Acid , Orthopedics , Traumatology
19.
Korean Journal of Pediatrics ; : 329-331, 2006.
Article in English | WPRIM | ID: wpr-96042

ABSTRACT

Alkaptonuria is a rare metabolic disease in which homogentisic acid cannot be metabolized due to a lack of the enzyme homogentisic acid oxidase. The disease often manifests itself in childhood by darkening of the urine upon standing. The disease leads to such serious consequences as ochronosis of cartilage and connective tissues with arthritis. It is expected that treatment with ascorbic acid and a dietary restriction of protein may decrease the late and serious consequences by diminishing the serum concentration of the metabolite benzoquinone acetic acid. A thirteen month-old girl was recently diagnosed with alkaptonuria by urine organic acid analysis. She excreted pinkish urine on a diaper and as time went by the urine color changed to a light brown. In laboratory findings, urine examination and culture results were normal. But urine organic acid analysis detected abnormal findings a prominent and massive elevation of homogentisic acid. The other physical findings were normal. This is the first case diagnosed in Korea.


Subject(s)
Female , Humans , Acetic Acid , Alkaptonuria , Arthritis , Ascorbic Acid , Cartilage , Connective Tissue , Homogentisate 1,2-Dioxygenase , Homogentisic Acid , Korea , Metabolic Diseases , Ochronosis
20.
Article in English | IMSEAR | ID: sea-153664

ABSTRACT

A rare case ofOchronotic arthropathy diagnosed on roentgen examination and confirmed by clinical history and urine examination is reported in this communication. To our knowledge this is the first ever case of this entity being reported from this region.

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