Useful Info
Can you believe?   

That up to 20% of Sudden Infant Death Syndrome cases may be attributed to an undiagnosed inborn error of metabolism such a urea cycle disorder. Urea cycle disorders are included in the category of inborn errors of metabolism. There is no cure. Inborn errors of metabolism represent a substantial cause of brain damage and death among newborns and infants. Because many cases of urea cycle disorders remain undiagnosed and/or infants born with the disorders die without a definitive diagnosis, the exact incidence of these cases is unknown and underestimated. It is believed that up to 20% of Sudden Infant Death Syndrome cases may be attributed to an undiagnosed inborn error of metabolism such a urea cycle disorder. In April 2000, research experts at the Urea Cycle Consensus Conference estimated the incidence of the disorders at 1 in 10,000 births. This represents a significant increase in case identification and diagnosis in the last few years.  Research studies have now been initiated to more accurately determine the incidence and prevalence of UCDs

Urea cycle disorder

A urea cycle disorder is a genetic disorder caused by a deficiency of one of the six enzymes in the urea cycle which is responsible for removing ammonia from the blood stream. The urea cycle involves a series of biochemical steps in which nitrogen, a waste product of protein metabolism, is removed from the blood and converted to urea. Normally, the urea is transferred into the urine and removed from the body. In urea cycle disorders, the nitrogen accumulates in the form of ammonia, a highly toxic substance, and is not removed from the body resulting in hyperammonemia (elevated blood ammonia). Ammonia then reaches the brain through the blood, where it causes irreversible brain damage, coma and/or death.

source=The National Urea Cycle Disorders Foundation 

California ( usa)

Metabolism Summary   

 

 

 

A general overview of the major metabolic pathways 
 
Metabolism is the set of chemical rections that occur in a cell, which enable it to keep living, growing and dividing. Metabolic processes are usually classified as:
  • catabolism - obtaining energy and reducing power from nutrients.
  • anabolism - production of new cell components, usually through processes that require energy and reducing power obtained from nutrient catabolism.
    There is a very large number of metabolic pathways. In humans, the most important metabolic pathways are:
  • glycolysis - glucose oxidation in order to obtain ATP
  • citric acid cycle (Krebs cycle) - acetyl-CoA oxidation in order to obtain GTP and valuable intermediates.
  • oxidative phosphorylation - disposal of the electrons released by glycolysis and citric acid cycle. Much of the energy released in this process can be stored as ATP.
  • pentose phosphate pathway - synthesis of pentoses and release of the reducing power needed for anabolic reactions.
  • urea cycle - disposal of NH4+ in less toxic forms
  • fatty acid β-oxidation - fatty acids breakdown into acetyl-CoA, to be used by the Krebs cycle.
  • gluconeogenesis - glucose synthesis from smaller percursors, to be used by the brain.
  • Source.http://www2.ufp.pt/~pedros/bq/integration.htm

Source.http://images.tutorvista.com/cms/images/44/steps-involved-in-lipid-metabolism1.png

 

2=A few of the metabolic pathways present in the cell

File:Metabolism scheme.GIF

SOURCE.http://en.citizendium.org/wiki/File:Metabolism_scheme.GIF

 

Dr Archibald Edward Garrod

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