MHAM COLLEGE OF MEDICINE Department of Biochemistry Case No. 9: PHENYLKETONURIA A 11-year-old girl is brought to her pediatrician’s office with concerns about her development. She had an uncomplicated birth. The mother reports that the baby is not achieving the normal milestones for a baby of her age. She also reports an unusual odor to her urine and some areas of hypopigmentation on her skin and hair. On examination, the girl is noted to have some muscle hypotonia and microcephaly. The urine collected is found to have a “mousy” odor. Learning Objectives: 1. . State the enzyme deficiencies that can lead to an elevated phenylalanine. Discuss metabolism of phenylalanine and fates of tyrosine. 2. 3. Explain the molecular genetics of the disease. 4. State the diagnosis of the case and discuss its bases. 5. List and discuss 3 differential diagnoses. 6. Discuss the pathophysiologic mechanisms behind the manifestations of the patient. a. Describe the biochemical events that occur when phenylalanine hydroxylase reaction is blocked. b. Discuss biochemical basis of the hypopigmented skin and hair. 7. State the laboratory tests utilized in the diagnosis of this disease. 8. Discuss the management and prognosis of this disease. eferences: 1. Lippincott’s Review of Biochemistry sk YN Harper's Review of Biochemistry Biochemistry by Lehninger Harrison's Internal Medicine1. VISES ERIE SY RUNES UNA dagkeg f Mooring, 4. Thenglataning sAyesine CAT FREER HAN CHE Ihe ammare, amino acide .Mekabeliem of these was deserves sfedal mention WO, ef ViolOqiEAMY fwportent compounds am Peeluced, rom dem - Desidieney OF UEYMNES An Ame wetowalle PArtoys Of HELE ANS YerUtttin no, & Anvorn erers. 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