Turpati Narayana Rao

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Homocystinuria (Homocystinuria due to cystathionine beta-synthase deficiency, classic homocystinuria, cystathionine beta-synthase deficiency)

Are You Confident of the Diagnosis? Homocystinuria is a metabolic disorder of the aminoacid methionine. The first case of homocystinuria was reported from Northern Ireland in 1960. Classical homocystinuria is an autosomal recessive disease and is characterized by accumulation of homocysteine in the serum and excretion of homocystine in urine. Newborn infants with homocystinuria appear…

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