Biomaterial Database

Alkaptonuria-associated aortic stenosis. 2013

Zoe S Y Lok, and Jacob Goldstein, and Julian A Smith

Department of Cardiothoracic Surgery, Monash Health, Clayton, Victoria, Australia.

Alkaptonuria is an autosomal recessive disorder of tyrosine metabolism, which results in accumulation of unmetabolized homogentisic acid and its oxidized product in various tissues, including the heart. Cardiovascular involvement is a rare but serious complication of the disease. We present two patients who have undergone successful aortic valve replacement for alkaptonuria-associated aortic stenosis along with a review of the literature.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D008875	Middle Aged	An adult aged 45 - 64 years.	Middle Age
D009206	Myocardium	The muscle tissue of the HEART. It is composed of striated, involuntary muscle cells (MYOCYTES, CARDIAC) connected to form the contractile pump to generate blood flow.	Muscle, Cardiac,Muscle, Heart,Cardiac Muscle,Myocardia,Cardiac Muscles,Heart Muscle,Heart Muscles,Muscles, Cardiac,Muscles, Heart
D006350	Heart Valve Prosthesis	A device that substitutes for a heart valve. It may be composed of biological material (BIOPROSTHESIS) and/or synthetic material.	Prosthesis, Heart Valve,Cardiac Valve Prosthesis,Cardiac Valve Prostheses,Heart Valve Prostheses,Prostheses, Cardiac Valve,Prostheses, Heart Valve,Prosthesis, Cardiac Valve,Valve Prostheses, Cardiac,Valve Prostheses, Heart,Valve Prosthesis, Cardiac,Valve Prosthesis, Heart
D006713	Homogentisic Acid	Dihydroxyphenylacetic acid with hydroxyls at the 2 and 5 positions of the phenyl ring.	Acid, Homogentisic
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000368	Aged	A person 65 years of age or older. For a person older than 79 years, AGED, 80 AND OVER is available.	Elderly
D000474	Alkaptonuria	An inborn error of amino acid metabolism resulting from a defect in the enzyme HOMOGENTISATE 1,2-DIOXYGENASE, an enzyme involved in the breakdown of PHENYLALANINE and TYROSINE. It is characterized by accumulation of HOMOGENTISIC ACID in the urine, OCHRONOSIS in various tissues, and ARTHRITIS.	Alcaptonuria,Homogentisic Acid Oxidase Deficiency,Homogentisic Acidura,Alcaptonurias
D001021	Aortic Valve	The valve between the left ventricle and the ascending aorta which prevents backflow into the left ventricle.	Aortic Valves,Valve, Aortic,Valves, Aortic
D001024	Aortic Valve Stenosis	A pathological constriction that can occur above (supravalvular stenosis), below (subvalvular stenosis), or at the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA.	Aortic Stenosis,Aortic Valve Stenoses,Stenoses, Aortic,Stenoses, Aortic Valve,Stenosis, Aortic,Stenosis, Aortic Valve,Valve Stenoses, Aortic,Valve Stenosis, Aortic