08-09-2006, 06:07 AM
A 1-month-old male infant is brought to the emergency department by his mother due to 3-day history of progectile vomiting.He has been formula-fed since birth,and his bowel movements aer normal.He has never been ill befor.His parents and4-yr -old sister are all healthy.One of his maternal uncles is mantally retarded.He weighs 3.1kg(7|b).Phyiscal examination reveals fair hair and skin,blue eyes,eczematous rash,mild signs of dehydration.His urine has a mousy odor.What is the most appropriate screening test for this patient's earlydiagnosis and treatment?
A.Aminolevulinc acid and prophobilinogen in the urine
B.Serum TSH
C.Blood level of alfa1-antiprotease
D.Guthrie test of in urine
A.Aminolevulinc acid and prophobilinogen in the urine
B.Serum TSH
C.Blood level of alfa1-antiprotease
D.Guthrie test of in urine