High prevalence of atypical delayed enhancement in alkaptonuria
نویسندگان
چکیده
منابع مشابه
High prevalence of atypical delayed enhancement in alkaptonuria
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 abnorma...
متن کاملAlkaptonuria.
Alkaptonuria (AKU) is a rare disorder of autosomal recessive inheritance. It is caused by a mutation in a gene that results in the accumulation of homogentisic acid (HGA). Characteristically, the excess HGA means sufferers pass dark urine, which upon standing turns black. This is a feature present from birth. Over time patients develop other manifestations of AKU, due to deposition of HGA in co...
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ژورنال
عنوان ژورنال: Journal of Cardiovascular Magnetic Resonance
سال: 2014
ISSN: 1532-429X
DOI: 10.1186/1532-429x-16-s1-p392