In 1951 Leigh described a condition which is now known as subacute necrotizing encephalomyelopathy. Ebels, Blokzijl, and Troelstra (1965) have summarized findings in 28 of these patients, all of whom died. Since then 6 further cases have been described by Worsley et al. (1965), Namiki (1965), Lakke, Ebels, and ten Thye (1967), and Clayton, Dobbs, and Patrick (1967). The metabolic background of ...

OBJECTIVE To determine the changes in availability of neonatal intensive care for extremely low birthweight (ELBW) infants, and the consequences of a lack of availability. DESIGN AND SETTING Population-based cohort study of consecutive ELBW infants born in the state of Victoria during four distinct eras. PARTICIPANTS All livebirths weighing 500-999 g in Victoria in the calendar years 1979-1...

BACKGROUND There is no comprehensive analytical technique to analyze N-acetylated metabolites in urine. Many of these compounds are involved in inborn errors of metabolism. In the present study, we examined the potential of proton nuclear magnetic resonance ((1)H-NMR) spectroscopy as a tool to identify and quantify N-acetylated metabolites in urine of patients with various inborn errors of meta...

Phenylketonuria is an autosomal recessive inborn error of metabolism which can be prevented by early and continuous treatment. Therefore newborn screening for phenylketonuria has been introduced in many countries. We present here the results of the selective newborn screening for inborn errors of metabolism, including PKU, performed by tandem mass spectrometry which has been introduced in Maced...

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 ...

In 1927 Archibald Garrod presented the Huxley Lecture at Charing Cross Hospital Out of this lecture emerged the concept of an “inborn error of metabolism” whereby an inherited defect may lead to the accumulation in cells or body fluids of a metabolite which in itself may predispose to disease. The disorders cited as examples were all adult onset disorders. Today there are over 200 known inborn ...