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Useful Info |
Unusual Smell In Urine?
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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
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Smells
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Maple syrup urine disease (MSUD)
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curry, maple syrup , burnt sugar , or fenugreek.
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Phenylketonuria (PKU)
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musty or mousy smell
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Cystinuria
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sulfur smell
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Isovaleric acidemia, Multiple acyl-Coa dehydrogenase deficiency, and 3-hydroxy-3-methylglutaric aciduria
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sweaty feet smell
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Methionine malabsorption
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cabbage smell
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Tyrosinemia
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cabbage or rancid butter.
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Trimethylaminuria
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fish market smell
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Methylmalonic academia
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acidic odor
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source= http://frontalcortex.com/?page=forums&topic=user_forums&qid=f12 |
Few UseFul Marker In IEM
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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 |
Gene&Gene Mutation
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The Role of Neuroimaging in Diagnosis and Treatment of inborn errors of metabolism
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Body regulates thousands of metabolic reactions simultaneously
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During Gestation
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Did You know?
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Can you believe?
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Metabolic Acidosis
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Proteins
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Blood Gases
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Dr Archibald Edward Garrod
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What Is Cell ?
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Metabolic Pathways
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ESSENTIAL / NONESSENTIL AMINO ACIDS
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Pyruvate Metabolism
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THE MISFITS
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GENETIC COUNSELLING
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REVIEW(IEM)
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Essential role of medical food for IEM
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"Criterion for including a test in NBS Panel"
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Current Treatment Strategies(IEM)
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Benefit of newborn screening
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Over the last 3 decades many new and effective therapies.....
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Inborn Errors of Metabolism in Infancy: A Guide to Diagnosis
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Metabolism Summary
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Robert Guthrie
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