Useful Info
Proteins   

All life requires protein since it is the chief tissue builder and part of every cell in the body. Among other functions, proteins help to: make hemoglobin in the blood that carries oxygen to the cells; form anti-bodies that fight infection; supply nitrogen for DNA and RNA genetic material; and supply energy.

Proteins are necessary for nutrition because they contain amino acids. Among the 20 or more amino acids, the human body is unable to synthesize 8, therefore, these amino acids are called essential amino acids. A food containing protein may be of poor biological value if it is deficient in one or more of the 8 essential amino acids: lysine, tryptophan, methionine, leucine, isoleucine, phenylalanine, valine, and threonine. Proteins of animal origin have the highest biological value because they contain a greater amount of the essential amino acids. Foods with the best quality protein are listed in diminishing quality order: whole eggs, milk, soybeans, meats, vegetables, and grains.


source=http://www.elmhurst.edu/~chm/vchembook/5900verviewmet.html

Unusual Smell In Urine?   

Many inborn errors of metabolism are associated with unusual smells in the urine. These often go unnoticed by the

physician, but are detected by a nurse or a parent. These odors may have significant diagnostic value.  

The description of the odor will vary depending on the cultural background of the person describing the odor
.


There are some urine odors which are described as being associated with specific inborn errors:

Disorders

Smells

Maple syrup urine disease (MSUD)

curry,   maple syrup ,  burnt sugar , or  fenugreek.  

Phenylketonuria (PKU)

 

  musty  or  mousy  smell

Cystinuria

 sulfur  smell


Isovaleric acidemia, Multiple acyl-Coa dehydrogenase deficiency, and 3-hydroxy-3-methylglutaric aciduria

 

 sweaty feet  smell

Methionine malabsorption

 

 cabbage  smell

Tyrosinemia

 

 cabbage  or  rancid butter.

Trimethylaminuria

 fish market  smell

Methylmalonic academia

 

acidic odor

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Gene&Gene Mutation

The Role of Neuroimaging in Diagnosis and Treatment of inborn errors of metabolism

Body regulates thousands of metabolic reactions simultaneously

During Gestation

Did You know?

Can you believe?

Metabolic Acidosis

Blood Gases

Dr Archibald Edward Garrod

What Is Cell ?

Metabolic Pathways

ESSENTIAL / NONESSENTIL AMINO ACIDS

Few UseFul Marker In IEM

Pyruvate Metabolism

THE MISFITS

GENETIC COUNSELLING

REVIEW(IEM)

Essential role of medical food for IEM

"Criterion for including a test in NBS Panel"

Current Treatment Strategies(IEM)

Benefit of newborn screening

Over the last 3 decades many new and effective therapies.....

Inborn Errors of Metabolism in Infancy: A Guide to Diagnosis

Metabolism Summary

Robert Guthrie

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