High prevalence of atypical delayed enhancement in alkaptonuria
نویسندگان
چکیده
Background Alkaptonuria is a rare autosomal recessive metabolic disorder with an incidence of 1 case in 250,000 to 1 million live births. This genetic abnormality involves the tyrosine metabolism pathway which results in homogentisic acid accumulation throughout various tissues, including the heart. The purpose of this study is to prospectively determine the prevalence of cardiovascular abnormalities characterized by MRI in patients with alkaptonuria.
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