An infant presented to the OPD with a history of vomiting and poor feeding. Musty odor is present in the baby's sweat and urine. Guthrie test was done and it was found to be positive. All are true regarding this disease except:
The given clinical condition is suggestive of phenylketonuria (PKU) PKU is caused by the deficiency of an enzyme phenylalanine hydroxylase. Guthrie bacterial inhibition test is a screening test for phenylketonuria. This test uses a phenylalanine requiring strain of Bacillus subtilis. Ferric chloride test is also used as a screening test for PKU. Tandem mass spectrometry is the gold standard investigation Reference: Harpers illustrated biochemistry 30th edition
Phenylacetate positive in urine
Tandem mass spectrometry is the gold standard test
Phenylalanine hydroxylase enzyme defect
mental retardation is absent
Structure and function of protein