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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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A 39-year-old member asked:

What is pku?

2 doctor answers5 doctors weighed in
Dr. Gurmukh Singh
Pathology 49 years experience
Phenylketonuria: It is an inherited metabolic disorder which if left untreated causes mental retardation in affected children. All states have programs to screen newborns for pku as it can be treated with a diet low in phenylalanine, an amino acid.
A 33-year-old member asked:

What are the symptoms associated with pku?

1 doctor answer1 doctor weighed in
Dr. James Ferguson
Pediatrics 46 years experience
Blond/slow/seizures: For babies born without newborn screening this is a significant risk. They have blonder hair than they should( metabolic thing), develop slowly and eventually have seizures and diminished intellect. State screening programs have been screening for this since the 1960's, and rarely miss a case.
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.

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Last updated Sep 30, 2020
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