Biomaterial Database

Aortic valve stenosis in alkaptonuric ochronosis. 2002

Miha Cercek, and Katja Prokselj, and Mirta Kozelj

Medical Centre Ljubljana, Department of Cardiovascular Diseases, Slovenia.

Alkaptonuria is a rare genetic disorder of tyrosine metabolism in which a bluish pigment accumulates in the connective tissues throughout the body, and causes degenerative changes. The most common clinical manifestation of ochronosis is arthropathy. Heart valves may also be affected, though cardiac involvement is rare. The present patient has cardiac ochronosis, and has several family members diagnosed with ochronosis and aortic valve stenosis.

UI	MeSH Term	Description	Entries
D009794	Ochronosis	The yellowish discoloration of connective tissue due to deposition of HOMOGENTISIC ACID (a brown-black pigment). This is due to defects in the metabolism of PHENYLALANINE and TYROSINE. Ochronosis occurs in ALKAPTONURIA, but has also been associated with exposure to certain chemicals (e.g., PHENOL, trinitrophenol, BENZENE DERIVATIVES).	Ochronoses
D005192	Family Health	The health status of the family as a unit including the impact of the health of one member of the family on the family as a unit and on individual family members; also, the impact of family organization or disorganization on the health status of its members.	Health, Family
D005260	Female		Females
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
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
D014443	Tyrosine	A non-essential amino acid. In animals it is synthesized from PHENYLALANINE. It is also the precursor of EPINEPHRINE; THYROID HORMONES; and melanin.	L-Tyrosine,Tyrosine, L-isomer,para-Tyrosine,L Tyrosine,Tyrosine, L isomer,para Tyrosine
D020022	Genetic Predisposition to Disease	A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.	Genetic Predisposition,Genetic Susceptibility,Predisposition, Genetic,Susceptibility, Genetic,Genetic Predispositions,Genetic Susceptibilities,Predispositions, Genetic,Susceptibilities, Genetic

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