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About 385 results

ALLMedicine™ Alkaptonuria Center

Research & Reviews  143 results

Study of Alkaptonuria
https://clinicaltrials.gov/ct2/show/NCT00005909

Jan 26th, 2023 - Alkaptonuria is a rare autosomal recessive disorder in which homogentisic acid accumulates and destroys connective tissue and bone, creating a condition called ochronosis. Symptoms generally begin in the third or fourth decade and progress to inca...

Bacterial quality of urinary tract in patients with alkaptonuria.
https://doi.org/10.1016/j.amjms.2022.12.028
The American Journal of the Medical Sciences; Al-Tarawneh A, Al-Limoun M et. al.

Jan 8th, 2023 - 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 frequ...

Clinical development innovation in rare diseases: overcoming barriers to successful del...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9811731
Orphanet Journal of Rare Diseases; Ranganath LR, Sireau N

Jan 5th, 2023 - Alkaptonuria is a rare inherited disorder for which there was no disease-modifying treatment. In order to develop a successful approved therapy of AKU multiple barriers had to be overcome. These included activities before the conduct of the study ...

Minocycline induced discoloration of the aortic intima and valve: A case report.
https://doi.org/10.1111/jocs.17129
Journal of Cardiac Surgery; O'Connell A, El-Andari R et. al.

Nov 7th, 2022 - Ochronosis refers to the blue-black discoloration of connective tissue. While cardiovascular ochronosis has been described resulting from alkaptonuria, it may also result from chronic minocycline use which is exceedingly rare. Cardiovascular ochro...

Evaluation of TYR Sphere in France
https://clinicaltrials.gov/ct2/show/NCT04761588

Sep 16th, 2022 - 10 participants with tyrosinaemia or alkaptonuria will be invited to participate in this study. Following consent they will be assessed by their dietitian and a recommended amount of Tyr sphere will be prescribed based on their individual needs. T...

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Clinicaltrials.gov  7 results

Study of Alkaptonuria
https://clinicaltrials.gov/ct2/show/NCT00005909

Jan 26th, 2023 - Alkaptonuria is a rare autosomal recessive disorder in which homogentisic acid accumulates and destroys connective tissue and bone, creating a condition called ochronosis. Symptoms generally begin in the third or fourth decade and progress to inca...

Evaluation of TYR Sphere in France
https://clinicaltrials.gov/ct2/show/NCT04761588

Sep 16th, 2022 - 10 participants with tyrosinaemia or alkaptonuria will be invited to participate in this study. Following consent they will be assessed by their dietitian and a recommended amount of Tyr sphere will be prescribed based on their individual needs. T...

Long-Term Study of Nitisinone to Treat Alkaptonuria
https://clinicaltrials.gov/ct2/show/NCT00107783

Aug 26th, 2021 - Alkaptonuria is a rare metabolic disease in which homogentisic acid (HGA), an intermediary metabolite in tyrosine catabolism, accumulates due to deficiency of the enzyme homogentisic acid oxidase. Patients with alkaptonuria exhibit homogentisic ac...

Nitisinone (NTBC) In Different Age Groups Of Patients With Alkaptonuria
https://clinicaltrials.gov/ct2/show/NCT01390077

Apr 22nd, 2021 - Study procedures are designed to: Develop a method for nitisinone measurement via tandem mass spectrometry (MS/MS). Determine whether differences between adult and children could be erased by employing a dosage regimen based on m2 of body surface ...

Individualised Gait Modification Strategies in Alkaptonuria Patients
https://clinicaltrials.gov/ct2/show/NCT04142671

Feb 26th, 2021 - Alkaptonuria (AKU) is a degenerative disease affecting the cartilage of the joints. The disease affects movement function, particularly walking/gait which is an important activity of daily living. It is believed that increased joint loading measur...

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News  4 results

Incidentally Discovered Ochronosis Explaining Decades of Chronic Pain
https://www.mdedge.com/fedprac/article/215093/pain/incidentally-discovered-ochronosis-explaining-decades-chronic-pain/page/0/2?channel=285

Jan 7th, 2020 - Manipulating the metabolic pathway of phenylalanine with medication is a second option. An example of this is nitisinone, a US Food and Drug Administration-approved medication for treatment of tyrosinemia.

Incidentally Discovered Ochronosis Explaining Decades of Chronic Pain
https://www.mdedge.com/fedprac/article/215093/pain/incidentally-discovered-ochronosis-explaining-decades-chronic-pain
Aaron Reyes, MD, Leila Hashemi, MD

Jan 7th, 2020 - Alkaptonuria is a rare autosomal recessive disorder uniquely known for causing black, or darkened, urine when left standing due to the renal excretion of excess homogentisic acid (HGA). When this disorder goes undiagnosed, as demonstrated in this.

Localized Argyria With Pseudo-ochronosis
https://www.mdedge.com/dermatology/article/96357/dermatopathology/localized-argyria-pseudo-ochronosis
Kyle M. Devins, BS, Herman S. Mogavero Jr, MD et. al.

Jan 9th, 2015 - Localized cutaneous argyria often presents as asymptomatic black or blue-gray pigmented macules in areas of the skin exposed to silver-containing compounds. 1 Silver may enter the skin by traumatic implantation or absorption via eccrine sweat gland.

On the Ocular Findings in Ochronosis
https://www.medscape.com/viewarticle/820497

Abstract Background Ochronosis/Alkaptonuria is a tyrosine metabolism disorder where accumulation of homogentisic acid, in eye, skin, cartilage and several other connective tissues leads to a black pigmentation of the affected tissues. It is autoso...

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