Question 1

what are symptoms of pku?

Accepted Answer

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.

Question 2

what are the signs and symptoms of pku?

Accepted Answer

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.

Question 3

hi doctors, can you tell me what is pku's signs and symptoms?

Accepted Answer

Complete overview: This is a link to a complete overview of PKU, provided by the Mayo Clinic.

http://www.mayoclinic.org/diseases-conditions/phenylketonuria/basics/definition/con-20026275

This should tell you all you need to know.

Question 4

how are causes and onsets of symptoms of huntington's disease different from those of pku and tay sacks disease?

Accepted Answer

Too broad a question: There are all inherited disorders with the common issue of neurologic impairment, hd in adults, pku and ts in children.  The neurologic damage in pku can be prevented with diet, but there is no treatment for hd and ts.  Tests are available to detect carrier status in all of these.

Question 5

can someone go through 65 years of life normally not knowing that they have pku/hpa and then suddenly at 65 have an onset of symptoms?

Accepted Answer

Doubtful: There are variants of phenylalanine metabolism.This includes a malignant form that responds poorly to any form of rx, classical pku & those with benign hyper phenylanemia that never were affected.Classical untreated pku results in mental deficiency/seizures/and more by 5 years of age.I'm  not aware of followup data on those with benign hyper-phe into that age group.

Question 6

how many different people in the u.s. suffer from phenylketonuria (pku)?

Accepted Answer

About 15,000: It is estimated that there are about 14, 000 - 15, 000 people in the usa living with pku. Pku alliance (a patient organization) has excellent information on how common pku is and how it is screened. Here link for your convenience: http://www.Npkua.Org/education/aboutpku.Aspx.

Question 7

does anyone know the percent of the u.s. population affected with phenylketonuria (pku)?

Accepted Answer

1 in 15000: Pku is found at a rate of 1 in 15000 in us. It is less common in asian-americans and african-americans. There are milder forms of pku with less severe symptoms.

Question 8

what is phenylketonuria (pku)?

Accepted Answer

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 &amp; the phe level raises in the blood &amp; urine. Untreated it will cause brain damage, short stature &amp; seizures. Treatment includes avoiding phe containing foods, meds &amp; regular followup.

Question 9

how serious is phenylketonuria?

Accepted Answer

Very: Untreated traditional PKU will eventually lead to brain damage, seizures and profound limitations in a persons life. Recognition and early treatment during the rapid development of infancy and childhood can help most lead a relatively normal life. Some variant forms are quite mild and require no treatment and others are so bad little will help.Offspring of affected females are at risk.

Question 10

what exactly is phenylketonuria?

Accepted Answer

Genetic disease: Inability to metabolize phenylalanine properly results in build up of toxic by-products. Patients need perfect compliance with a carefully-planned diet to avoid extremely severe brain damage. Outcome is good nowadays. Good luck.

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Doctor answers about:

Phenylketonuria symptoms in adults

A member asked:

What are symptoms of pku?

A member asked:

What are the signs and symptoms of pku?

A member asked:

Hi doctors, can you tell me what is pku's signs and symptoms?

A member asked:

How are causes and onsets of symptoms of huntington's disease different from those of pku and tay sacks disease?

A member asked:

Can someone go through 65 years of life normally not knowing that they have pku/hpa and then suddenly at 65 have an onset of symptoms?

A member asked:

How many different people in the u.s. suffer from phenylketonuria (pku)?

A member asked:

Does anyone know the percent of the u.s. population affected with phenylketonuria (pku)?

A member asked:

What is phenylketonuria (pku)?

A member asked:

How serious is phenylketonuria?

A member asked:

What exactly is phenylketonuria?

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