Posted On :
03 Oct 2005
In my clinic, a male baby aged 1.5 years presented with developmental delay. On physical examination, he mas found microcephalic, hypotonic, with facial dysmorphic features {squint and full cheeks}and severe developmental delay. Brain Ct revealed diffuse brain atrophy. Aminogram was done for him and high phenylalanine level {20 mg,ml}. Aminogram was repeated again and gave the same result. Aminoacids profile was asked for his mother and surprisingly she was not found heterozygous for PKu. What's your opinion?
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