Re: Maple Syrup Urine Disease in adults?

[CCF Neuro[P] MD RPS]

Posted By CCF Neuro[P] MD, RPS on January 10, 1999 at 16:26:25:

In Reply to: Maple Syrup Urine Disease in adults? posted by Pat on January 10, 1999 at 10:38:34:






Everything I have read about Maple Syrup Urine Disease refers to it as a
pediatric disease characterized by the unique odor of the urine.  Is it
possible for an adult to acquire the disease?    Is the odor also noticeable in perspiration?  
In the past few years, I have noticed that my perspiration, after exertion, has a faintly sweet odor. (Almost like pancakes!) I have changed soap, laundry detergent and discontinued wearing perfume.  The odor lingers on my skin (arms and torso) and stays on my clothes. Simultaneously, I have become more fatigued and mentally sluggish and forgetful.   I am in my mid-thirties.
Please tell me where I can find information regarding a sickly-sweet odor of perspiration.  Is there any reason to be concerned about this phenomenon?    I appreciate any information.  Pat.
Dear Pat:
Yes, Maple Syrup Urine Disease is a pediatric disease.  It is caused by the lack of activity (< 5% of normal) activity of branched-chain ketoacid dehydrogenase.  There are three forms, the classic form as you have probably read about, then there are two other forms.  The second is an intermediate form which causes progressive mental retardation, they have coarse brittle hair and the urine may have the odor of maple syrup.  The third type is the intermittent type.  This form causes recurrent attacks of ataxia and encephalopathy.  Symptoms in this latter form begin betwee 5 months and 2 years of age.  It sounds like you have neither of the three types of maple syrup urine disease.  I am not sure what to tell you.  Most of body odors come from the bacteria that grows on our skin.  Do other people smell the same odor as you do?  I am not sure how worried you should be, first I would see if anyone else smells the same odor as you do, then I would get an antibacterial soap, like Lever 2000 and use it for awhile and
see if things change.  If it persists, then I would see a good internist.  Good luck.
Sincerely,
CCF Neuro MD