5 doctors weighed in:

What are the signs and symptoms of PKU?

5 doctors weighed in
Dr. Jalal Zuberi
Pediatrics
2 doctors agree

In brief: 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.

In brief: 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.
Dr. Jalal Zuberi
Dr. Jalal Zuberi
Thank
Dr. Susumu Inoue
Pediatrics - Hematology & Oncology
1 doctor agrees

In brief: 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

In brief: 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
Dr. Susumu Inoue
Dr. Susumu Inoue
Thank