scholarly journals Skin pigmentation, a window to diagnose Alkaptonuria: a very rare entity

2017 ◽  
Vol 5 (6) ◽  
pp. 2801
Author(s):  
Sandhya Chauhan ◽  
Ashok Garg ◽  
G. R. Tegta ◽  
Kuldeep Thakur
Keyword(s):  
Autosomal Recessive ◽  
Skin Pigmentation ◽  
Clinical Manifestations ◽  
Homogentisic Acid ◽  
Cardiac Complications ◽  
Acid Oxidase ◽  
Urine Examination ◽  
Tyrosine Metabolism ◽  
Oxidase Enzyme ◽  
Rare Inborn Error

Alkaptonuria (AKU) or endogenous ochronosis is a very rare inborn error of tyrosine metabolism inherited by autosomal recessive mode. There is complete absence of homogentisic acid oxidase enzyme which results in accumulation of homogentisic acid in cartilaginous connective tissue thus produces ochronotic clinical manifestations. Here we reported a 36 year old woman with bluish pigmentation of pinnae, index fingers (lateral aspect), nails, teeth and sclera. Detailed clinical and investigative workup was done to diagnose patient. Skin biopsy showed changes of ochronosis and urine examination revealed detectable level of homogentisic acid. Classical ocular findings, ochronosis on clinical and HPE and positive urinary tests for homogentisic acid confirmed the diagnosis of alkaptonuria. The highlight of our case is that an asymptomatic patient was detected early by ochronosis prior to development of musculoskeletal or cardiac complications.

Electron Microscopic and Isozyme Study of a Case of Ochronosis

1972 ◽  
Vol 30 ◽  
pp. 88-89
Author(s):  
Jay W. Cha ◽  
Perry J. Melnick
Keyword(s):  
Benzene Ring ◽  
Enzyme System ◽  
Homogentisic Acid ◽  
Degenerative Changes ◽  
Acid Oxidase ◽  
Electron Microscopic ◽  
Tyrosine Metabolism ◽  
Collagenous Tissues

Hereditary ochronosis in very few cases has been examined electron microscopically or histochemically. In this disease homogentisic acid, a normal intermediary of tyrosine metabolism, forms in excessive amounts. This is believed to be due to absence or defective activity of homogentisic acid oxidase, an enzyme system necessary to break the benzene ring and to further break it down to fumaric and acetoacetic acids. Ochronotic pigment, a polymerized form of homogentisic acid, deposits mainly in mesenchymal tissues. There has been a question whether the pigment originates from the collagenous tissues, or deposits passively, where in contrast to melanin it induces degenerative changes.

Alkaptonuria: clinical manifestations and an updated approach to treatment of a rare disease

2021 ◽  
Vol 14 (12) ◽  
pp. e244240
Author(s):  
Ryan Curtis Roopnarinesingh ◽  
Noel Edward Donlon ◽  
John V Reynolds
Keyword(s):  
Rare Disease ◽  
Enzymatic Degradation ◽  
Autosomal Recessive ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Cartilage Destruction ◽  
Homogentisic Acid ◽  
Connective Tissues ◽  
Tendon Ruptures ◽  
Published Research

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.

scholarly journals SPONTANEOUS ACHILLES TENDON RUPTURE - A CASE OF OCHRONOSIS

2013 ◽  
Vol 03 (03) ◽  
pp. 113-115 ◽  
Author(s):  
Sanath Kumar Shetty ◽  
Raj Sankar N. R. ◽  
Nirmal Babu P. ◽  
Lawrence J. Mathias ◽  
Shubha P. Bhat ◽  
...  
Keyword(s):  
Achilles Tendon ◽  
Spontaneous Rupture ◽  
Autosomal Recessive ◽  
Tendon Rupture ◽  
Achilles Tendon Rupture ◽  
Autosomal Recessive Disorder ◽  
Intervertebral Discs ◽  
Homogentisic Acid ◽  
Acid Oxidase ◽  
Articular Cartilages

AbstractAlkaptonuria is a rare autosomal recessive disorder characterised by the absence of homogentisic acid oxidase and the subsequent accumulation of homogentisic acid, a metabolic product of the aromatic aminoacids phenylalanine and tyrosine; which is deposited in articular cartilages, intervertebral discs, sclera, tympanic membrane, tendons and ligaments leading to their degeneration. Here we describe a case of spontaneous rupture of Achilles tendon1,2,3 due to Ochronosis.

scholarly journals Case Report: Ochronotic Arthropathy

2021 ◽  
Author(s):  
Ülkü Dönmez ◽  
Ece Çınar ◽  
Cihat Öztürk ◽  
Simin Hepgüler
Keyword(s):  
Soft Tissues ◽  
Clinical Findings ◽  
Homogentisic Acid ◽  
Inflammatory Back Pain ◽  
Joint Involvement ◽  
Acid Oxidase ◽  
Ochronotic Arthropathy ◽  
Vitamin C Supplementation ◽  
Oxidase Enzyme ◽  
Chronic Arthropathy

Ochronosis is a rare metabolic disease caused by the deficiency of the homogentisic acid oxidase enzyme. It gives clinical findings related to the accumulation of homogentisic acid in soft tissues and excretion in urine. Patients with chronic arthropathy usually have some joint pain and inflammatory back pain. Although axial involvement radiologically resembles ankylosing spondylitis (AS), it is differentiated by the absence of typical syndesmophytes, facet involvement, sacroiliac erosion and fusion.Although there is no effective treatment for ochronosis disease; our patient was given a protein-poor diet, vitamin C supplementation (100 mg/kg/day) and analgesic treatment for symptoms recommended in the literature; and a reduction in joint complaints was observed. In this case, the aim is to diagnose the rare ochronotic arthropathy followed with the diagnosis of AS and to show that both axial and peripheral joint involvement can be together in this disease.

scholarly journals Polyarticular Ochronotic Arthritis: A Case Report

2019 ◽  
Vol 2 (1-3) ◽  
pp. 1-13 ◽  
Author(s):  
Marco Di Marco ◽  
Silvia Elena De Martinis ◽  
Marcello Truzzi ◽  
Roberto Viganò
Keyword(s):  
Functional Limitation ◽  
Homogentisic Acid ◽  
Knee Joints ◽  
Acid Oxidase ◽  
Inherited Disease ◽  
Ochronotic Arthropathy ◽  
Clinical Presentations ◽  
Oxidase Enzyme ◽  
Total Knee

Alkaptonuria is an inherited disease due to the lack of homogentisic acid oxidase enzyme. The most common clinical presentations are a brownish-grey color of the sclera, dark skin, kidney stones, aortic calcifications, and ochronotic arthropathy. Ochronotic arthropathy is characterized by the accumulation of homogentisic acid in the connective tissue determining severe joint degeneration. We present the case of a woman affected by ochronosis since the age of 30 years. The patient showed a severe degeneration of the hip and knee joints bilaterally, associated with an important and painful functional limitation. Conservative care did not achieve good results. We performed bilateral cementless total knee arthroplasty and bilateral cementless total hip arthroplasty. We report satisfactory outcomes in terms of range of motion and pain control in a 6-year follow-up. Our approach to this pathology is the same we adopt with rheumatoid arthritis after our decennial experience. We suggest that prosthetic replacement represents a definitive way to treat ochronotic arthropathy.

scholarly journals Alkaptonuria and Ochronosis – Experience From Slovakia

2014 ◽  
Vol 61 (1) ◽  
Author(s):  
J. Rovenský ◽  
T. Urbánek ◽  
R. Imrich
Keyword(s):  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Homogentisic Acid ◽  
Recessive Condition ◽  
Tyrosine Metabolism ◽  
Autosomal Recessive Condition

AbstractAlkaptonuria is a rare inherited genetic disorder of phenylalanine and tyrosine metabolism. This is an autosomal recessive condition that is caused due to a defect in the enzyme homogentisate 1,2-dioxygenase, which participates in the degradation of tyrosine. As a result, homogentisic acid and its oxide accumulate in the blood and are excreted in urine in large amounts. The polymer of homogentisic acid called alkapton impregnates bradotrophic tissues.

Papillon-Lefevre Syndrome: Challenge for Periodontal Management

2019 ◽  
Vol 3 (2) ◽  
pp. 84-86
Author(s):  
Krishna Prasad Lamichhane ◽  
Shaili Pradhan ◽  
Ranjita Shreshta Gorkhali ◽  
Pramod Kumar Koirala
Keyword(s):  
Significant Role ◽  
Autosomal Recessive ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Genetic Mutations ◽  
Rare Autosomal Recessive Disorder ◽  
Diagnosis And Management ◽  
Periodontal Destruction ◽  
Palmoplantar Keratosis

Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder associated with rapidly progressing periodontitis leading to premature loss of deciduous and permanent dentition and diffuse palmoplantar keratosis. Immunologic alterations, genetic mutations, and role of bacteria are some aetiologic factors. Patients present with early periodontal destruction, so periodontists play a significant role in diagnosis and management. This paper reports a case of Papillon- Lefevre syndrome with its clinical manifestations and challenges for periodontal management which was diagnosed in dental department.

scholarly journals Animal Models of Autosomal Recessive Parkinsonism

Biomedicines ◽  
2021 ◽  
Vol 9 (7) ◽  
pp. 812
Author(s):  
Guendalina Bastioli ◽  
Maria Regoni ◽  
Federico Cazzaniga ◽  
Chiara Maria Giulia De Luca ◽  
Edoardo Bistaffa ◽  
...  
Keyword(s):  
Animal Models ◽  
Sleep Disturbances ◽  
Autosomal Recessive ◽  
Clinical Manifestations ◽  
Cognitive Disorders ◽  
Dopamine Neurons ◽  
Substantia Nigra Pars Compacta ◽  
Current Status ◽  
Unknown Etiology ◽  
Neuron Death

Parkinson’s disease (PD) is the most common neurodegenerative movement disorder. The neuropathological hallmark of the disease is the loss of dopamine neurons of the substantia nigra pars compacta. The clinical manifestations of PD are bradykinesia, rigidity, resting tremors and postural instability. PD patients often display non-motor symptoms such as depression, anxiety, weakness, sleep disturbances and cognitive disorders. Although, in 90% of cases, PD has a sporadic onset of unknown etiology, highly penetrant rare genetic mutations in many genes have been linked with typical familial PD. Understanding the mechanisms behind the DA neuron death in these Mendelian forms may help to illuminate the pathogenesis of DA neuron degeneration in the more common forms of PD. A key step in the identification of the molecular pathways underlying DA neuron death, and in the development of therapeutic strategies, is the creation and characterization of animal models that faithfully recapitulate the human disease. In this review, we outline the current status of PD modeling using mouse, rat and non-mammalian models, focusing on animal models for autosomal recessive PD.

Mucopolysaccharidosis III in Mainland China: natural history, clinical and molecular characteristics of 34 patients

2020 ◽  
Vol 33 (6) ◽  
pp. 793-802 ◽  
Author(s):  
Weijing Kong ◽  
Yan Meng ◽  
Liping Zou ◽  
Guang Yang ◽  
Jing Wang ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Autosomal Recessive ◽  
Mainland China ◽  
Clinical Manifestations ◽  
Hereditary Disease ◽  
Molecular Characteristics ◽  
Speech Delay ◽  
Initial Symptoms ◽  
Mps Iii ◽  
Mps Iiia

AbstractObjectivesSanfilippo syndrome (Mucopolysaccharidosis III, MPS III) is a rare autosomal recessive hereditary disease, which is caused by lysosomal enzyme deficiency. This study was operated to investigate clinical and molecular characteristics of patients with MPS III, which will improve the diagnosis and treatment of MPS III.MethodThirty four patients with MPS III were assessed using clinical evaluation, questionnaire, and scoring system.ResultsAmong the 34 patients, 14 had MPS IIIA, 19 had MPS III B, and one had MPS III C. Speech delay (100%) and intellectual disability (100%) were the most prevalent clinical manifestations in this cohort, followed by hyperactivity (94.12%), hirsutism (91.18%), enlarged head circumference (73.52%), repeated diarrhea (67.64%), sparse teeth (67.64%), and Mongolian spots (64.71%). There were two clinical manifestations that were significantly different between IIIA and IIIB: Hepatosplenomegaly and serrated teeth. The most common initial symptoms at diagnosis were speech delay (52.94%), hyperactivity (35.29%), and mental retardation (29.41%). Genetic analysis of 25 patients was conducted, which identified 12 novel mutations.ConclusionWhen language retardation, mental retardation, and rough facial features occurred, MPS III should be considered. At same time, more examination should be operated, such as examination of changes in cranial magnetic resonance imaging of cerebral cortex atrophy. Hepatosplenomegaly and serrated teeth could be used clinically to preliminarily distinguish IIIA from IIIB.

scholarly journals Managing the combined consequences of COVID-19 infection and lock-down policies on athletes: narrative review and guidelines proposal for a safe return to sport

2020 ◽  
Vol 6 (1) ◽  
pp. e000849
Author(s):  
Jean-Bernard Fabre ◽  
Laurent Grelot ◽  
William Vanbiervielt ◽  
Julien Mazerie ◽  
Raphael Manca ◽  
...  
Keyword(s):  
Sports Medicine ◽  
Acute Myocarditis ◽  
Multiorgan Failure ◽  
Clinical Manifestations ◽  
Return To Sport ◽  
Disease Spread ◽  
Cardiac Complications ◽  
Professional Soccer ◽  
Physical Abilities ◽  
Fitness And Health

COVID-19 pandemic is a global health matter. The disease spread rapidly across the globe and brought the world of sports to an unprecedented stoppage. Usual symptoms of the disease are fever, cough, myalgia, fatigue, slight dyspnoea, sore throat and headache. In more severe cases, dyspnoea, hypoxaemia, respiratory failure, shock and multiorgan failure occur. This appears to be a self-limiting phenomenon related to individuals with coexisting medical conditions, such as hypertension, diabetes and cardiovascular disorders. Nevertheless, cases have been reported in professional soccer players in extremely good fitness condition, demonstrating that athletes are not spared by the disease. Despite COVID-19 clinical manifestations are mainly respiratory, major cardiac complications are being reported, leading to acute myocarditis. One difficulty is that symptoms of COVID-19 vary among individuals, with athletes being affected with no apparent sign of the disease. This could be a real danger for amateur or professional athletes when returning to their usual training and thus to play. Another threat is that the lock-down policies did not allow most athletes to follow their usual training routines. There is thus a need for a careful approach by the sports medicine community to ensure safety of all athletes before they return to sport. Here, we propose evaluation guidelines of fitness and health of athletes to (1) reduce any lethal risk of practice, especially myocarditis and sudden cardiac death; (2) evaluate the combined consequences of the disease and detraining on the physical abilities and biological profile of athletes; and (3) monitor postinfection fatigue symptoms.

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