- A case of 'blue skin' and 'dark urine'. [Journal Article]
- MJMed J Armed Forces India 2018; 74(3):300-303
- A 60-year-old female presented with a 20-year history of progressive dark bluish discoloration of skin and passage of dark colored urine, painful arthritis and a recent history of invasive ductal car...
A 60-year-old female presented with a 20-year history of progressive dark bluish discoloration of skin and passage of dark colored urine, painful arthritis and a recent history of invasive ductal carcinoma of right breast. Skin biopsy revealed hyaline material which was Periodic-Acid-Schiff stain positive and Congo-red stain negative, urine analysis revealed dark urine with presence reducing substance and radio-imaging showed intervertebral ossification and joint ankyloses. The patient was managed symptomatically with physiotherapy and acetaminophen on as required basis. This image is reported as a classic case of Alkaptonuria with clinical, histopathological and radio-imaging findings and the presence of invasive ductal breast carcinoma in the same patient.
- Nitisinone arrests ochronosis and decreases rate of progression of Alkaptonuria: Evaluation of the effect of nitisinone in the United Kingdom National Alkaptonuria Centre. [Journal Article]
- MGMol Genet Metab 2018 Jul 24
- CONCLUSIONS: This is the first indication that a 2 mg dose of nitisinone slows down the clinical progression of AKU. Combined ocular and ear ochronosis progression was arrested by nitisinone.
- Absorbance measurements of oxidation of homogentisic acid accelerated by the addition of alkaline solution with sodium hypochlorite pentahydrate. [Journal Article]
- SRSci Rep 2018 Jul 27; 8(1):11364
- The urine of patients with alkaptonuria turns dark brown due to the oxidation of homogentisic acid (HGA) to benzoquinone acetic acid (BQA), and this is accelerated by the addition of alkali. We recen...
The urine of patients with alkaptonuria turns dark brown due to the oxidation of homogentisic acid (HGA) to benzoquinone acetic acid (BQA), and this is accelerated by the addition of alkali. We recently reported that alkaptonuric urine and HGA after the addition of alkali showed characteristic peaks at 406 and 430 nm. In order to improve the sensitivity of our spectrometric method for the detection of HGA, we accelerated the oxidation of HGA to BQA using sodium hypochlorite pentahydrate (NaOCl·5H2O), which is a strong oxidant. In the present study, we measured the absorption spectra of alkaptonuric urine and HGA solution after the addition of sodium hydroxide (NaOH) or NaOH with NaOCl·5H2O and analyzed the oxidation reaction of HGA after alkalization using a liquid chromatography time-of-flight mass spectrometer (LC/TOF-MS) and nuclear magnetic resonance (NMR) spectrometry. We accelerated the oxidation of HGA to BQA by adding NaOH with NaOCl·5H2O, and this absorbance measurement was useful for more sensitively observing the oxidation of HGA than LC/TOF-MS and NMR spectroscopy. This quick and easy screening method may be suitable for the diagnosis of alkaptonuria.
- Clinical and biochemical assessment of depressive symptoms in patients with Alkaptonuria before and after two years of treatment with nitisinone. [Journal Article]
- MGMol Genet Metab 2018 Jul 19
- CONCLUSIONS: BDI-II scores were significantly higher following 24 months of nitisinone therapy in patients that were followed up, however the majority of these patients remained in the minimal category of depression. Serum tyrosine and urinary 3-MT increased significantly following treatment with nitisinone. In contrast urinary 5-HIAA did not decrease consistently over the same period studied. Together these findings suggest nitisinone does not cause depression despite some observed effects on monoamine neurotransmitter metabolism.
- An Osteochondral Allograft in a Patient with Ochronosis: A Case Report. [Journal Article]
- JCJBJS Case Connect 2018 Jul 25
- CONCLUSIONS: Alkaptonuria is an uncommon metabolic disorder that causes arthropathy of peripheral joints. When there is a focal defect, an osteochondral allograft is a valid, joint-preserving option that allows return to activity.
- O 082 - Self-selected gait modifications to reduce the internal knee abduction moment in Alkaptonuria patients. [Journal Article]
- GPGait Posture 2018 Jul 02
- Ochronosis of the aortic valve. [Journal Article]
- JTJ Thorac Dis 2018; 10(5):E332-E334
- Ochronosis is the bluish-black discolouration of connective tissue, including heart valves, joints, kidney and the skin. It is due to the deposition of homogentisic acid (HGA) commonly found in alkap...
Ochronosis is the bluish-black discolouration of connective tissue, including heart valves, joints, kidney and the skin. It is due to the deposition of homogentisic acid (HGA) commonly found in alkaptonuria. Ochronosis in the aortic valve is a rare occurrence and there is limited data available on the most appropriate choice of valve prosthesis in these patients. This case involves a 72-year-old male with symptomatic aortic stenosis and on echocardiogram a severe calcific trileaflet aortic stenosis with normal ejection fraction. Intraoperative aortic cannulation was routine and uncomplicated, and bluish-black discolouration of aortic valve was noted. Thorough decalcification was undertaken and a bioprosthetic valve was chosen in accordance with patient's age and preference. There were no complications post-operatively and the patient reported being well. Ochronosis affecting the aortic valve is a rare condition and there is limited data on the recurrence rate as well as the natural history of the disease. This case reports aims to provide data to facilitate further research to better understand the natural history of aortic valve ochronosis and rates of recurrence following bioprosthetic aortic valve replacement (AVR).
- 'As Black as Ink"-A Case of Alkaptonuria-Associated Myelopathy and a Review of the Literature. [Journal Article]
- SSpine (Phila Pa 1976) 2018 Jun 21
- CONCLUSIONS: Alkaptonuria is a rare cause of myelopathy, but one that clinicians should understand. Although no disease-modifying treatment currently exists for alkaptonuria, the use of symptomatic treatments and, particularly, surgical decompression is recommended to address myelopathy if it develops.
- Inflammatory and oxidative stress biomarkers in alkaptonuria: data from the DevelopAKUre project. [Journal Article]
- OCOsteoarthritis Cartilage 2018 May 29
- CONCLUSIONS: Monitoring of SAA may be suggested in AKU to evaluate inflammation. Though further evidence is needed, SAA, chitotriosidase activity and PTI might be proposed as disease activity markers in AKU.
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- Serum Amino Acid Profiling in Patients with Alkaptonuria Before and After Treatment with Nitisinone. [Journal Article]
- JRJIMD Rep 2018 May 13
- CONCLUSIONS: Marked hypertyrosinaemia was observed following treatment with nitisinone. Noteworthy changes were also observed in the ratio of several amino acids following treatment with nitisinone suggesting that the availability of amino acids for neurotransmitter biosynthesis and liver function may be altered following treatment with nitisinone.