Genetic Analysis: An Integrated Approach (3rd Edition)
Genetic Analysis: An Integrated Approach (3rd Edition)
3rd Edition
ISBN: 9780134605173
Author: Mark F. Sanders, John L. Bowman
Publisher: PEARSON
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Chapter B, Problem 2P
Summary Introduction

To review:

To discuss Homocystinuria and its specialized diet based treatment.

Introduction:

Homocystinuria is an inherited disorder in which the body is unable to process certain amino acids properly due to a deficiency of cystathionine beta synthase. Homocystinuria is a disorder of methionine metabolism that leads to abnormal accumulation of homocysteine and its metabolites (homocystine and homocysteine-cysteine complex) in blood and urine. Usually, these metabolites are not found in significant amounts in blood or urine. An autosomal recessively inherited defect in the transsulfuration pathway (homocystinuria I) or methylation pathway (homocystinuria II and III) termed as Homocystinuria.

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