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Chapter 5S: The Adult Patient with Hereditary Metabolic Disease
Contributors: Philip J. Lee
Editors' Comment
Monogenic inborn errors of metabolism are a set of disorders inherited in Mendelian fashion, usually as mutant homozygotes for autosomal recessive alleles or as mutant hemizygotes for X-linked alleles. It is their nature to express themselves first in the newborn period or early infancy. Hence, these diseases attract the attention of pediatricians. Accordingly, diagnosis and treatment have been part of pediatric medicine up to now.
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