About 308 results

ALLMedicine™ Alkaptonuria Center

Research & Reviews  116 results

Ochronotic heart disease leading to severe aortic valve and coronary artery stenosis.
Journal of Cardiac Surgery; Velez AK, Gaughan NA et. al.

Jun 14th, 2021 - Cardiac ochronosis is a rare disease, estimated to affect 1 in 250,000 persons. While there is extensive evidence of the musculoskeletal alterations of the disease, cardiac involvement has not been widely studied and most information we currently ...

Alkaptonuria - GeneReviews® - NCBI Bookshelf

Jun 10th, 2021 - Alkaptonuria is caused by deficiency of homogentisate 1,2-dioxygenase, an enzyme that converts homogentisic acid (HGA) to maleylacetoacetic acid in the tyrosine degradation pathway. The three major features of alkaptonuria are dark urine or urine ...

Alkaptonuria in Turkey: Clinical and molecular characteristics of 66 patients.
European Journal of Medical Genetics; Kisa PT, Gunduz M et. al.

Mar 23rd, 2021 - Alkaptonuria (AKU) is an inborn error of metabolism caused by the deficiency of homogentisate 1,2-dioxygenase (HGD) as a result of a defect in the HGD gene. HGD enzyme deficiency results in accumulation of homogentisic acid (HGA) in the body, whic...

A Mimic of Ankylosing Spondylitis, Ochronosis: Case Report and Review of the Literature.
Current Allergy and Asthma Reports; Chu P, Cuellar MC et. al.

Mar 6th, 2021 - Ochronosis and alkaptonuria are manifestations of the same condition-a rare autosomal recessive disorder resulting from a constitutional lack of homogentisate 1,2-dioxygenase (HGD) with the consequent accumulation of homogentisic acid (HGA). In oc...

Alkaptonuria in Russia: mutational spectrum and novel variants.
European Journal of Medical Genetics; Bychkov I, Kamenets E et. al.

Feb 24th, 2021 - Alkaptonuria is a rare genetic disease caused by mutations in HGD gene. Here we report the results of genetic and biochemical analysis of 49 Russian patients with alkaptonuria. One of the common variants c.481G > A; p.(Gly161Arg) comprising 72.4% ...

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Clinicaltrials.gov  4 results

Study of Alkaptonuria

Feb 25th, 2020 - 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...

Nitisinone (NTBC) In Different Age Groups Of Patients With Alkaptonuria

May 16th, 2016 - 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 ...

Dose Response Study of Nitisinone in Alkaptonuria

Jun 11th, 2014 - SONIA 1 is an international, multicentre, randomised, open-label, no-treatment controlled, parallel group, dose-response study to investigate the effect of once daily nitisinone on 24-hour urinary homogentisic acid excretion in patients with alkap...

Long-Term Study of Nitisinone to Treat Alkaptonuria

Jan 19th, 2011 - 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...

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News  3 results

Incidentally Discovered Ochronosis Explaining Decades of Chronic Pain

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.

Localized Argyria With 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

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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