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Old 07-30-2011
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I agree burned sugar

A first-time mother notices that her 7-day-old infantís urine smells like burnt sugar. The infant is feeding poorly and vomits frequently. Which enzymes are likely defective in this child?
A. Proximal tubule amino acid transporters
B. Branched-chain alpha-keto acid dehydrogenase complex
C. Methylenetetrahydrofolate reductase
D. Homogentisic acid dioxygenase
E. Tyrosinase
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Old 07-30-2011
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Quote:
Originally Posted by ricko335 View Post
a first-time mother notices that her 7-day-old infantís urine smells like burnt sugar. The infant is feeding poorly and vomits frequently. Which enzymes are likely defective in this child?
A. Proximal tubule amino acid transporters
b. Branched-chain alpha-keto acid dehydrogenase complex
c. Methylenetetrahydrofolate reductase
d. Homogentisic acid dioxygenase
e. Tyrosinase
b....mapple syrup urine disease
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Old 07-30-2011
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Branched-chain alpha-keto acid dehydrogenase complex --> MSUD
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Learning is like to row your boat upstream, if you stop learning, you will be pushed back by the current.
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Old 07-30-2011
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I'll go with B...
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Old 07-30-2011
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correct answer= B: MSUD (if u have MSUD u can`t LIV (Leucine-Isoleucin-Valine)

others wrong:
A= cystinuria due to defective COLA amino acid renal tubular transport
C= convertion of DHF to THF in the de novo synthesis of TMP
D= involved in tyrosine degradation partway
E= associated with albinism.

thus B is the only option associated with odor of burnt sugar on baby diapers

Last edited by Desos; 07-30-2011 at 08:47 AM.
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Old 07-30-2011
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B. Branched chain alpha keto acid
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Old 07-30-2011
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I agree

it was a easy 1
the answer is b maple syrup urine disease
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