R. NEIL SCHIMKE, M.D.
It has been a scant 7 years since homocystinuria was first described as an inborn error in the metabolic pathway from methionine to cystine. The genetic lesion has been established as an autosomal recessive defect in the activity of cystathionine synthase, the enzyme catalyzing the condensation of homocysteine and serine to form cystathionine. As a consequence of this metabolic block, methionine and homocystine accumulate in the plasma and urine of affected patients, and endogenous cystine is deficient. The clinical spectrum has been defined by the description of over 100 patients with this disorder and includes ectopia lentis, severe and premature
SCHIMKE RN. Low-Methionine Diet Treatment of Homocystinuria. Ann Intern Med. ;70:642–643. doi: 10.7326/0003-4819-70-3-642
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Published: Ann Intern Med. 1969;70(3):642-643.
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