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Chapter: 11 / Q: 11.7
A 6-year-old boy with eczematoid rash, abnormal face, and prominent maxilla complains from deterioration in school performance
Chapter: 11 / Q: 11.8
A 5-year-old mentally retarded girl presented with repeated convulsions and abnormal EEG finding
Chapter: 11 / Q: 11.9
In the classic phenylketonurea, the affected infant is normal at birth,
Chapter: 11 / Q: 11.10
The mainstay of treatment of phenylketonurea (PKU) is especial diet. All the following statements are true EXCEPT
Chapter: 11 / Q: 11.11
A 4-month-old boy presented with failure to thrive, rapid breathing, and repeated vomiting
Chapter: 11 / Q: 11.12
A 10-month-old boy presented with failure to thrive, fever, jaundice, hepatomegaly, and severe rickets
Chapter: 11 / Q: 11.13
A 15-month-old boy had recurrent hospital admissions because of fever, jaundice, subcutaneous bleeding, and hypoglycemic fist; on examination, there is hepatomegaly
Chapter: 11 / Q: 11.14
The MOST appropriate method to confirm the diagnosis of tyrosinemia type 1is by elevated level of
Chapter: 11 / Q: 11.15
A 10-day-old boy presented with lethargy, poor feeding, repeated vomiting, and recurrent hypoglycemic fits not responding to IV glucose
Chapter: 11 / Q: 11.16
A 27-day-old girl presented with abnormal bicycling movement, lethargy, poor feeding, and repeated vomiting for the last 7 days
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