A newborn with Maple Syrup Disease (P-01)

Five days after birth an infant becomes irritable, lethargic and difficult to feed. Two days later, the neonate presents seizures and consequently the parents look for professional help immediately. The patient is hospitalized and physical examination shows an opisthotonic posture and rigidity of the arms. During the interview, the mother mentions a strange odor, like burned sugar, in “wet diapers” that were not disposed immediately. The pediatrician then consider the possibility of this patient having Maple Syrup Urine Disease and looks for (and finds) the characteristic odor in the cerumen of the infant.  Laboratory tests are done immediately and the results show a marked ketonuria, and hyponatremia. A study of plasma amino acids reveals an increase of leucine, valine and isoleucine in plasma, typical of MSUD, since this disease is a consequence of the lack of an enzyme that participates in the degradation of these:


a)      polar amino acids

b)      branched chain amino acids

c)      aromatic amino acids

d)     sulfurated amino acids

e)      acid amino acids

f)       basic amino acids





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2 thoughts on “A newborn with Maple Syrup Disease (P-01)

  1. Pingback: Composition of Alpha keto Acid Dehydrogenase Multienzymatic Complexes « The Biochemistry Questions Site

  2. Pingback: Answer to P-01 « The Biochemistry Questions Site

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