Homocystinuria

Homocystinuria, also known as homocystinuria and pseudo Marfan syndrome, was first reported by Carson and Neill and Gerrit-sen et al. (1962), respectively. It is caused by methionine metabolic disorders due to enzyme defects. The disease caused is a congenital metabolic disorder with sulfur amino acids and is a syndrome involving the eyes, cardiovascular, bones, and nervous system. The main clinical manifestations are multiple thrombosis, mental retardation, ectopic lens, and long fingers (toes). There are reports that the parents of most patients are married to close relatives. The morbidity rate is about 1/2 to 40,000 live births, but it varies greatly from region to region.

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