A 3-month-old female presents with intention tremors, dystonia, greenish-yellow rings in the cornea, and hepatomegaly. Tests reveal a defect on chromosome 13. Which of the following is the most likely diagnosis?
a. Galactosemia
b. Fructosemia
c. Wilson disease
d. Cirrhosis
ANS: C
Wilson disease is manifested by dystonia and greenish-yellow rings in the cornea.
Galactosemia is manifested by high levels of blood galactose and vomiting. Fructosemia is mani-fested by high levels of blood fructose and hepatomegaly but not dystonia and rings in the cor-nea. Cirrhosis is manifested by hepatomegaly but not dystonia and greenish-yellow rings in the cornea.
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