Copyrights: Copyright © 2014 by author(s) and International College of Human Nutrition and Functional Medicine www.ICHNFM.org 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 2014:2(1);2 Chronic Diseases as Inborn Errors of ...

An inborn error of metabolism is a metabolic defect caused by an abnormality in one or more genes. An abnormality present at birth is not necessarily inborn: the foetus may acquire congenital disease such as syphilis or deformity through intrauterine injury. Of more direct nutritional interest are the diseases of the newborn that occur through administration of substances to the pregnant woman ...

The introduction of experimental treatment for lysosomal storage disorders and the increasing understanding of the molecular defects behind many inborn errors have overshadowed the fact that for many affected families the best that can be offered is a rapid, accurate prenatal diagnostic service. Many conditions remain at best only partially treatable and as a consequence the majority of parents...

Seizures may be the first and the major presenting feature of an inborn error of metabolism (IEM), for example in a neonate with pyridoxine-dependent epilepsy. In other IEMs, seizures may be preceded by other major symptoms: by a reduced level of consciousness in a child with an organic acidaemia or urea cycle defect; or by loss of skills, progressive weakness, ataxia, and upper motor signs in ...

regulation of these genes, then, are thought to be the common mechanism in tumorigenesis. Whereas physicians of antiquity saw cancer as a single disease which manifested itself in various organs, in more recent times cancer had been thought of as hundreds of separate diseases; with the current understanding of oncogenes, there is again the view of a strong common thread. In September 1982, many...

After completing this article, readers should be able to: 1. Recognize the signs and symptoms that are suggestive of an inborn error of metabolism. 2. Describe the characteristics of different classes of metabolic syndromes. 3. Formulate a logical diagnostic approach to determining which specific condition is present when an inborn error of metabolism is suspected. 4. Delineate the value and sc...

Inborn errors of metabolism (IEMs) are a vast, diverse, and heterogeneous set of genetic disorders. Hepatic-based IEMs are a significant cause of morbidity and mortality, and represent a common indication for liver transplantation (LTx) in the paediatric population. This review focuses on four of the most common hepatic-based IEMs where Tx, either as whole organ liver or as isolated hepatocytes...

CONTEXT Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins. OBJECTIVES A clinical review of inborn errors of metabolism (IEM) to give a practical approach to the physician with figures and tables to help in understanding the more common groups o...

This paper proposes a bridge between the Herding literature and the literature on Rational Expectations under asymmetric information. In particular we examine how the presence of discrete investment decisions affects the properties of a market equilibrium where information is costly to acquire. We choose to focus on the case where individual decisions are discrete since this appears to be the k...

Refractive errors are a common cause of decreased visual acuity. They can be found in 2-4% of preschool children. If not discovered on time and not properly treated, they can lead to amblyopia and strabismus. The active participation of parents and paediatricians is of great importance in timely discovering and treatment of amblyopia. The most common causes of amblyopia are strabismus (50.1%) a...