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Blog Archive

Sunday, June 8, 2008

Phenylketonuria and Maple Syrup Urine disease. Recognised bloodborne odor problems

Main points :
From Merck manual
Other accepted bloodborne odors caused by errors in metabolizing certain amino acids
The main point : Can people with only mildly defective genes (or combos with 1 very bad copy, a null allelle) who are regarded 'asymptomatic' have a 'secret' transient odor problem ?

Phenylketonuria : mousy odor
Maple Syrup Urine Disease : sweet smell


Both Phenylketonuria and Maple Syrup Urine disease in their purest forms (and variations close to that) are serious life-threatening health problems that will be quickly diagnosed (that's how the medical system mostly discover health problems). But what about 'normal' 'carriers' or having one 'serious' copy and a combo with a mild defective copy and other variations ? Perhaps these people are 'asymptomatic' to their doctors, but they silently suffer from transient odor issues that they can't smell and doesn't affect their physical health.

Quotes from Merck manual :

Phenylketonuria
"Untreated children often give off a "mousy" body and urine odor as a result of a by-product of phenylalanine (phenylacetic acid) in their urine and sweat."

Maple Syrup Urine Disease
" and the odor of maple syrup particularly during physical stress, such as infection or surgery."

http://www.merck.com/mmhe/sec23/ch282/ch282c.html#

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