Pediatric emergency medicine trisk 0991 0991
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TABLE 50.2
METABOLIC DISEASE ASSOCIATED WITH UNUSUAL ODORS
In the odor of cat’s urine syndrome, the enzymatic defects are in the biotindependent enzymes β-methylcrotonyl-CoA carboxylase, pyruvate carboxylase,
and propionyl-CoA carboxylase. The cause of the distinctive aroma of cat urine,
referred to as male or “tomcat” urine, is unknown. Clinically, children have
failure to thrive, ketoacidosis, and neurologic symptoms similar to Werdnig–
Hoffmann disease. Treatment consists of a low-leucine diet and the addition of
biotin.
Fish odor syndrome, trimethylaminuria, results in the unmistakable odor of
dead or rotting fish in the urine, breath, and sweat. This aroma is produced by a
buildup of trimethylamine, caused by an inherited deficiency in flavin
monooxygenase 3, the vital enzyme for the metabolism of trimethylamine.
Clinical and laboratory presentation includes stigmata of Turner syndrome,
history of recurrent pulmonary infections, a normal complement of chromosomes,
neutropenia, and abnormal platelet function. While the disease itself is not life
threatening, it can be devastating from a psychosocial perspective and has been
associated with suicide attempts, hence practitioners need to remain attentive to
this often-overlooked diagnosis. Unfortunately, there is no cure or dietary
adjustment that can reduce the excretion of trimethylamine; attention to body
hygiene may be helpful.
