A 5-day-old boy is brought to the emergency department after a tonic-clonic seizure at home. The infant is the product of a full-term, uneventful pregnancy, and was normal until two days prior to presentation. The mother re- ports irritability and poor feeding at home, and the infant was difficult to rouse this morning before suffering the seizure. On physical ex- amination, the infant is tachypneic to 75/min, has icteric sclerae, and has poor muscle tone throughout. Laboratory studies show the fol- lowing levels: plasma ammonia, 300 μmol/L (normal = 10-40 μmol/L); blood urea nitro- gen, 1.5 mg/dL; and creatinine, 0.4 mg/dL. A plasma amino acid analysis fails to detect citrulline. Urine amino acids demonstrate el- evated orotic acid levels.

Question

A 5-day-old boy is brought to the emergency department after a tonic-clonic seizure at home. The infant is the product of a full-term, uneventful pregnancy, and was normal until two days prior to presentation. The mother re- ports irritability and poor feeding at home, and the infant was difficult to rouse this morning before suffering the seizure. On physical ex- amination, the infant is tachypneic to 75/min, has icteric sclerae, and has poor muscle tone throughout. Laboratory studies show the fol- lowing levels: plasma ammonia, 300 μmol/L (normal = 10-40 μmol/L); blood urea nitro- gen, 1.5 mg/dL; and creatinine, 0.4 mg/dL. A plasma amino acid analysis fails to detect citrulline. Urine amino acids demonstrate el- evated orotic acid levels.

by admin (2.6k points) in Biochemistry asked Sep 15

A 5-day-old boy is brought to the emergency department after a tonic-clonic seizure at home. The infant is the product of a full-term, uneventful pregnancy, and was normal until two days prior to presentation. The mother re- ports irritability and poor feeding at home, and the infant was difficult to rouse this morning before suffering the seizure. On physical ex- amination, the infant is tachypneic to 75/min, has icteric sclerae, and has poor muscle tone throughout. Laboratory studies show the fol- lowing levels: plasma ammonia, 300 μmol/L (normal = 10-40 μmol/L); blood urea nitro- gen, 1.5 mg/dL; and creatinine, 0.4 mg/dL. A plasma amino acid analysis fails to detect citrulline. Urine amino acids demonstrate el- evated orotic acid levels. This patient suffers from a deficiency of which of the following en- zymes?

(A) a-Galactosidase A
(B) Aldose B
(C) Galactose 1-phosphate uridylyltransferase

(D) Lysosomal a-glucosidase
(E) Ornithine transcarbamylase

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