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A 32-year-old member asked:

What are the signs and symptoms of pku?

2 doctor answers5 doctors weighed in
Dr. Jalal Zuberi
Pediatrics 45 years experience
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. Susumu Inoue
Pediatric Hematology and Oncology 54 years experience
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

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A 29-year-old member asked:

What are symptoms of pku?

1 doctor answer5 doctors weighed in
Dr. Gurmukh Singh
Pathology 49 years experience
Mental retardation: Infants with the condition often have lighter skin, hair, and eyes than siblings other symptoms may include: delayed mental and social skills, head size significantly below normal, hyperactivity, jerking movements of the arms or legs, mental retardation, seizures, skin rashes, tremors, unusual positioning of hands. For additional information consult: http://www.Ncbi.Nlm.Nih.Gov/pubmedhealth/pmh000.
Dr. Johanna Fricke
Developmental and Behavioral Pediatrics 50 years experience
It is checked on newborn screening in all states. Dietary management prevebts Intellectual Disability.
Nov 17, 2012
Dr. Johanna Fricke
Developmental and Behavioral Pediatrics 50 years experience
It is checked on newborn screening in all states. Dietary management prevebts Intellectual Disability.
Nov 17, 2012

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Last updated Sep 13, 2015
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