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Ch. 3 - Cell Division and Chromosome Heredity

Chapter 3, Problem 2

Homocystinuria is a rare autosomal recessive condition on the RUSP list of conditions screened by newborn genetic testing. The condition results from a mutation that blocks the degradation of the amino acid methionine. The absence of a critical enzyme causes the buildup of the compound homocysteine, which is one of the intermediate compounds in the methionine breakdown pathway. Homocystinuria causes mental impairment, heart problems, seizures, eye abnormalities, and a number of other symptoms that shorten life if not treated. The condition is treated by a specialized diet that is low in methionine and by the ingestion of several supplements.

The low-methionine diet must be maintained throughout life to manage homocystinuria. Why do you think this is the case?

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