88) Explanation Clinical Manifestations of Classic Pheny | Paediatrics videos & books
Clinical Manifestations of Classic Phenylketonuria
• The affected infant is normal at birth.
• Mental retardation may develop gradually and may not
be evident for the 1st few months.
• Vomiting, sometimes severe enough to be misdiagnosed
as pyloric stenosis, may be an early symptom.
• Older untreated children become hyperactive, with
purposeless movements, rhythmic rocking, and
• Infants are lighter in their complexion than unaffected
siblings with blonde hair.
• These children have an unpleasant odor of Phenyl-acetic
acid, which has been described as musty or mousey.
• Most infants are hypertonic with hyperactive deep
• Microcephaly, prominent maxilla with widely spaced
teeth, enamel hypoplasia, and growth retardation are
other common findings in untreated children.