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Updates: The most complete version of this article is available at the following location

Copyrights: Copyright © 2014 by author(s) and International College of Human Nutrition and Functional Medicine


Citation: Gonzalez MJ, Miranda-Massari JR, Duconge J, Arroyo JP. Chronic Diseases as Inborn Errors of Metabolism: The

Metabolic Correction Therapy Approach.

International Journal of Human Nutrition and Functional Medicine


International Journal of Human Nutrition and Functional Medicine

Puerto Rico

Clinical Model of Health and Disease

• Review • Nutritional Science • Biochemical Individuality

Chronic Diseases as Inborn Errors of Metabolism:

The Metabolic Correction Therapy Approach

Michael J. Gonzalez


Jorge R. Miranda-Massari


Jorge Duconge


Juan Pablo Arroyo


University of Puerto Rico, Medical Sciences Campus, School of Public Health, Department of Human Development, Nutrition Program,

School of Pharmacy,


Department of Pharmacy Practice,


Department of Pharmaceutical Sciences, San Juan, PR 00936, University of South



Department of Applied Anthropology, Tampa, FL.

Key Words: Metabolic Correction, Chronic Disease, Inborn errors of Metabolism


The term inborn error of metabolismwas coined by British

physician, Archibald Garrod (1857-1936), in the early

20th century (1908). He is known for the "one gene, one

enzyme" hypothesis, which arose from his studies on the

nature and inheritance of alkaptonuria. His seminal text,

Inborn Errors of Metabolism was published in 1923 (



Inborn errors of metabolism comprise a large

number of genetic diseases which involves disorders of

metabolism. The majority are due to defects of single

genes that code for enzymes. Inborn errors of metabolism

are inherited disorders. These disorders may be caused by

the altered activity of essential enzymes, deficiencies of

the substances that activate the enzymes, or faulty

transport of important metabolic compounds.

Inborn errors of metabolism often require dietary

changes. The particular enzyme absence or inactivity for

each inborn error of metabolism dictates which

components are restricted and which should be

supplemented. The goals of nutrition therapy are to correct

the metabolic imbalance and promote growth and

development by providing the adequate needed nutrition,

while also restricting (or supplementing) one or more

nutrients or dietary components. These restrictions and/or

supplementations are specific for each disorder. Inborn

errors of metabolism, if subtle can accumulate incomplete

metabolic products that can give rise to chronic

degenerative diseases.

Chronic degenerative diseases are diseases in

which the function or structure of affected tissues or

organs will progressively deteriorate over time, whether

due to normal bodily wear or lifestyle choices such as

exercise or eating habits. These long-lasting diseases are

characterized by a slow, progressive deterioration.

Degenerative diseases are major causes of morbidity and





We believe that the main human degenerative diseases

are divided into four groups: cardiovascular, neoplastic,

structural and diseases of the nervous system.

This paper will discuss some relevant aspects (i.e.,






/physiological) in order to answer the question whether

CDD should be considered inborn errors of metabolism.

Why we should consider chronic degenerative

diseases as inborn errors of metabolism?

The idea of considering chronic degenerative diseases as

inborn errors of metabolism is supported by a large

amount of evidence concerning the hereditary and

biochemical aspects of diseases.