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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 Medicinewww.ICHNFM.org
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
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
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.