A member asked:

What are the signs and symptoms of pku?

5 doctors weighed in across 2 answers
Dr. Jalal Zuberi answered

Specializes in Pediatrics

Varying signs: PKU detection test is mandatory newborn screening in the developed world, including all 50 states in the US. The early s/s of PKU include seizures, microcephaly ( small head) other developmental delays, eczema etc. tests should always be repeated within 2 wks to confirm diagnosis. Earlier intervention by phenyl alanine free diet can reverse most signs.

Answered 12/1/2014

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Dr. Susumu Inoue answered

Specializes in Pediatric Hematology and Oncology

Mental retardation: In the USA, PKU is one of newborn screening tests, and all affected babies are treated early before any symptoms develop. But if untreated, vomiting, seizures, spastic extremities may develop, together with profound mental retardation, and failure to thrive. These symptoms are developed gradually. If you have any suspicion of PKU in any child, please consult with a pediatrician as soon as possible

Answered 9/13/2015

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