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| SPECIALIST ANSWERS
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Question |
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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Answer |
PKU is a high possibility. Patients with PKU have light hair and fair skin, mental retardation, mousy odor to urine, microcephaly (small head), prominent cheek and upper jaw bones with widely spaced teeth, poor development of tooth enamel, and decreased body growth.
Enzyme levels can be done to confirm the diagnosis especially since the mother is not heterozygous. Spontaneous mutation is a possibility. Other causes of high phenylalanine are Tyrosinemia, Tetrahydrobiopterin deficiency.
One must also rule out 2 following syndromes:
WILLIAMS SYNDROME
SMITH-LEMLI-OPITZ SYNDROME
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