Useful Info
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

source=   http://frontalcortex.com/?page=forums&topic=user_forums&qid=f12
Few UseFul Marker In IEM   
 
The first useful marker is the ammonia level. Urea cycle defects have extremely elevated ammonia levels, sometimes in excess of 2000 ug/dL. Organic acidemias and benign transient hyperammonemia of the newborn (THAN) have ammonia elevations that can overlap, but are not usually as high as those found in urea cycle defects.
 
The next useful laboratory marker is the presence or absence of hypoglycemia. Infants with elevated ammonia levels in the presence of hypoglycemia have a reasonable likelihood of having an organic acidemia. Infants with hyperammonemia without hypoglycemia tend to have urea cycle defects. Hypoglycemia without hyperammonemia can signal a carbohydrate metabolism defect (e.g., galactosemia, defect in gluconeogenesis, or a glycogen storage disease) or a fatty acid oxidation deficiency in the older infant. 
source=http://www.hawaii.edu/medicine/pediatrics/pedtext/s04c04.html
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