Inborn Errors of Metabolism 01

Topic: Pediatric

Created on Friday, September 14 2007 by jdmiles

Last modified on Friday, September 14 2007.

 
        A) What's the big deal?  Everyone's pee smells like that.  No workup is necessary.
 
        B) Isovaleric acidemia
 
        C) A defect in branched-chain amino acid metabolism
 
        D) 3-methylcrotonyl-CoA carboxylase deficiency
 
        E) Tyrosinemia type 1
 

 

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This question was created on September 14, 2007 by jdmiles.
This question was last modified on September 14, 2007.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS

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A) What's the big deal?  Everyone's pee smells like that.  No workup is necessary.

This answer is incorrect.

The scent of maple syrup, burnt sugar, curry, or fenugreek in urine should prompt suspicion for maple syrup urine disease (MSUD).   (See References)

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B) Isovaleric acidemia

This answer is incorrect.

Isovaleric acidemia is an inborn error of metabolism associated with a "sweaty feet" smell in the urine.  It is a genetic deficiency of phenylalanine hydroxylase activity.  (See References)

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C) a defect in branched-chain amino acid metabolism

This answer is correct.

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. 

Maple syrup urine disease (MSUD) is an inborn error of branched-chain amino acid metabolism.  It is associated with odors which are described in the literature as resembling "curry," "maple syrup", "burnt sugar", or "fenugreek." 

The description of the odor will vary depending on the cultural background of the person describing the odor.  For example, many people from Mediterranean areas are unfamiliar with the scent of maple syrup, and are more likely to describe the scent of the urine as "fenugreek."  Folks from California may have no idea what fenugreek is, but are likely to recognize burnt sugar. 

  (See References)

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D) 3-methylcrotonyl-CoA carboxylase deficiency

This answer is incorrect.

3-methylcrotonyl-CoA carboxylase deficiency is an inborn error of metabolism associated with a "cat urine" smell in the urine.   (See References)

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E) Tyrosinemia type 1

This answer is incorrect.

Tyrosinemia type 1 is an inborn error of metabolism associated with a "cabbage" or "rancid butter" smell in the urine.  (See References)

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References:

1. Pastores, G.M. and Kolodny, E.H. (2004). Inborn errors of metabolism of the nervous system. In Bradley, W.G., Daroff, R.B., Fenichel, G.M., and Jankovic, J. (Eds.). Neurology in Clinical Practice, Fourth Edition. Butterworth Heinemann, Philadelphia, pp. 1811-1832.
2. Burton, B.K. (1998). "Inborn errors of metabolism in infancy: a guide to diagnosis." Pediatrics, 102(6) E69. (PMID:9832597)
3. Monastiri, K., Limame, K., Kaabachi, N., Kharrat, H., Bousnina, S., Pousse, H., Radhouane, M., Gueddiche, M.N., and Snoussi, N. (1997). "Fenugreek odour in maple syrup urine disease." J Inherit Metab Dis, 20(4) 614-5. (PMID:9266407)
4. N. Blau, M. Duran, M. E. Blaskovics, K. M. Gibson, . . Springer-Verlag (ISBN:354042542X)	Advertising:

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pediatric
Inborn Errors of Metabolism 01
Question ID: 091407136
Question written by J. Douglas Miles, (C) 2006-2009, all rights reserved.
Created: 09/14/2007
Modified: 09/14/2007
Estimated Permutations: 118800