Homocystinuria
Homocystinuria, also known as homocystinuria and pseudo-Marfan syndrome, was first reported by Carson and Neill and Gerrit-sen et al. (1962). It is a disease caused by methionine metabolism disorder due to enzyme deficiency. It is a congenital metabolic disorder of sulfur-containing amino acids and a syndrome involving the eye, cardiovascular, bone, and nervous systems. The main clinical manifestations are multiple thrombosis, mental retardation, ectopic crystals, and excessive length of fingers (toes). It has been reported that the parents of most patients are close relatives. The incidence rate is about 1/20,000 to 40,000 live births, but it varies greatly from region to region.
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Site of disease:
whole body -
Infectious :
Not contagious -
Frequent population:
juvenile -
Related symptoms:
Marfan syndrome Special rat odor in urine Chest deformity Convulsions Scoliosis -
Concurrent disease:
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