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Alkaptonuria

Known as: Alcaptonuria, Alkaptonuria [Disease/Finding], AKU 
A rare autosomal recessive disorder characterized by abnormalities in the metabolism of phenylalanine and tyrosine. It results in the accumulation in… 
National Institutes of Health

Related topics

Related topics

28 relations

Narrower (1)

Alkaptonuric ochronosis

Broader (3)

Amino Acid Metabolism, Inborn ErrorsFetal DiseasesNutritional and Metabolic Diseases
Aortic dilatationAortic valve calcificationAutosomal recessive inheritanceBack Pain

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2014
Highly Cited
2014
Suitability Of Nitisinone In Alkaptonuria 1 (SONIA 1): an international, multicentre, randomised, open-label, no-treatment controlled, parallel-group, dose-response study to investigate the effect of…
Background Alkaptonuria (AKU) is a serious genetic disease characterised by premature spondyloarthropathy. Homogentisate-lowering… 
Review
2013
Review
2013
Recent advances in management of alkaptonuria (invited review; best practice article)
Alkaptonuria (AKU) is an autosomal recessive condition arising as a result of a genetic deficiency of the enzyme homogentisate 1… 
Highly Cited
2011
Highly Cited
2011
The role of calcified cartilage and subchondral bone in the initiation and progression of ochronotic arthropathy in alkaptonuria.
OBJECTIVE Alkaptonuria is a genetic disorder of tyrosine metabolism, resulting in elevated circulating concentrations of… 
Review
2004
Review
2004
Alkaptonuria, ochronosis, and ochronotic arthropathy.
OBJECTIVES To describe the clinical presentation and course of a relatively large group of Italian adult patients screened for… 
Review
1998
Review
1998
Cutaneous deposition diseases. Part II.
Highly Cited
1998
Highly Cited
1998
Characterization of a Fungal Maleylacetoacetate Isomerase Gene and Identification of Its Human Homologue*
We have previously used Aspergillus nidulans as a fungal model for human phenylalanine catabolism. This model was crucial for our… 
Highly Cited
1996
Highly Cited
1996
The molecular basis of alkaptonuria
Alkaptonuria (AKU) occupies a unique place in the history of human genetics because it was the first disease to be interpreted as… 
Highly Cited
1996
Highly Cited
1996
Alkaptonuria: such a long journey
MITF (microphthalmia–associated transcription factor) encodes a transcription factor with a basic–helix–loop–helix–zipper (bHLH… 
Highly Cited
1969
Highly Cited
1969
Oxidation of homogentisic acid to ochronotic pigment in connective tissue.
Review
1963
Review
1963
Biochemical, pathologic and clinical aspects of alcaptonuria, ochronosis and ochronotic arthropathy: Review of world literature (1584–1962)
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