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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.
Dr. James Isobe
Phlebology 54 years experience
Inherited disease: Phenylketonuria is inherited (autosomal recessive) disease in which the amount of phenylalanine hydroxylase in the body is inadequate to breakdown the Amino Acid phenylalanine, resulting in mental retardation. All babies are tested today to identify this problem, and dietary changes are made to decrease the amount of phenylalanine intake.

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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
A 44-year-old member asked:

What is phenylketonuria (pku)?

1 doctor answer3 doctors weighed in
Dr. James Ferguson
Pediatrics 46 years experience
Gene mutation: When someone inherits a defective gene from two unaffected parents they can have pku. They can't make the enzyme phenyalanine (phe) hydroxylase.The dietary protein phe cannot be broken down & the phe level raises in the blood & urine. Untreated it will cause brain damage, short stature & seizures. Treatment includes avoiding phe containing foods, meds & regular followup.
A 46-year-old member asked:

What is the treatment for pku?

3 doctor answers10 doctors weighed in
Dr. Gurmukh Singh
Pathology 49 years experience
Diet: A diet low in phenylalanine. You should consult a nutitionist well versed with the this diet. The treatment is very essential in childhood and during pregnancy.

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Last updated Apr 30, 2016
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