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Doctor insights on: Pku And Breastfeeding Quadruplets

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What are symptoms of pku?

What are symptoms of pku?

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. ...Read more

Dr. Barbara Lavi
4 doctors shared insights

Breastfeeding (Definition)

Breastfeeding is providing nutrition to an infant using breat milk either directly by infant latching and sucking on the nipple or by feeding via bottle with expressed breast milk (when baby has difficulty suckling). Breast milk is the best milk for any baby but ...Read more


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What is phenylketonuria (pku)?

What is phenylketonuria (pku)?

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. ...Read more

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What is the treatment for pku?

What is the treatment for pku?

Prevention: For classic genetic autosomal recessive pku detected through newborn screening, the treatment is prevention by restricting dietary intake of phenylalanine for infants beginning in first week of life. Affected women also follow same diet restriction before/during pregnancy to protect the next embryo/fetus. Amino acid supplements also recommended, especially true in the bh4 deficiency varient. ...Read more

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Is pku and huntington disease the same disease entity?

Is pku and huntington disease the same disease entity?

Some comments: Pku is a problem with children and this needs early diagnosis to prevent profound complications. Huntington's chorea is an autosomal dominant disorder occurring later in life, and is relatively rare, but genetic counseling might be valuable. Neither disorder has any relationship to the other. ...Read more

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Following the detection of phenylketonuria or pku in an infant, what is the treatment?

Following the detection of phenylketonuria or pku in an infant, what is the treatment?

Diet Rx: The primary treatment is the removal of any phenylalanine in their diet. This is accomplished by a strict diet free of the material in infancy & childhood. Duration of this treatment depends a lot on the situation. Women with pku must be on restricted diet during pregnancy or they risk brain injury & birth defects in their offspring. Adults off diet face various declines in mental performance. ...Read more

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What fruits and veggies can you eat with pku or phenylketonuria, if you're trying to be vegan?

What fruits and veggies can you eat with pku or phenylketonuria, if you're trying to be vegan?

Likely geens.: Whether you are trying to be vegan or not, you muist avoid foods high in phenylalanine. These are foods like meat, chicken, fish, eggs, nuts, cheese, legumes, milk and other dairy products and starchy foods, like potatoes, bread, pasta, and corn, must be monitored. The sweetener aspartame, in many diet foods and soft drinks, must also be avoided. Leafy greens are likely ok. See dr. To be sure. ...Read more

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A person needs 1 pah mutation from each parent to have pku/hpa. Do they need to be the same mutation or can one be ie a300s and one be e390g?

A person needs 1 pah mutation from each parent to have pku/hpa.  Do they need to be the same mutation or can one be ie a300s and one be e390g?

Genetic counselor : At this time, i would not commit my opinion to this very good question. I would seek advice from perinatologist and/or genetic counselor. ...Read more

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I have a 2 year old duaghter that was diagnosed with pku at birth. I have a terrible time getting her to eat. What are some tasty options to try?

I have a 2 year old duaghter that was diagnosed with pku at birth. I have a terrible time getting her to eat. What are some tasty options to try?

Low-Phe veges +: As you probably know, the secret to a healthy diet for classical phenylketonuria (pku) is food with low amounts of the Amino Acid phenylalanine, under the close supervision of a biochemical geneticist and a metabolic dietician. Support groups and "pku camps" seem to have great suggestions.Try this link: http://www.Pkunews.Org/. ...Read more

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Should i be concerned if my sister has pku and we recently found that it's starting to affect her brain. Is there anything we can do to help or reverse the harm?

Should i be concerned if my sister has pku and we recently found that it's starting to affect her brain. Is there anything we can do to help or reverse the harm?

Help, yes.Reverse ?: The primary plan to limit the effects of pku is maintaining the pku diet. Three decades ago the effort concentrated on the first 6 years of life, but later efforts have been directed at maintaining the lifestyle when possible.The human brain is actively maturing for at least the first 22-25 years, and once injured, nerve cells are resistant to repair.Contact a pku center for followup care. ...Read more

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What is pku?

What is pku?

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. ...Read more

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How id pku inherited?

How id pku inherited?

Recessive gene trait: We each have pairs of any specific gene & these reside on the chromosome passed from the respective parent.When a defective gene comes from one parent, but not the other, the normal gene can keep up with the bodies needs. (no PKU) If both parents pass the bad gene, no work is done & PKU develops.If one defective gene produced the problem it would be called a "dominant" gene or inheritance ...Read more

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How many people have pku in the world?

How many people have pku in the world?

Phenylketonuria-PKU: "Classical PKU affects between 1 in 10,000 and 1 in 20,000 depending on the country of origin. The incidence varies widely in different human populations from 1 in 4,500 births among the population of Ireland[3] to fewer than one in 100,000 births among the population of Finland." from website National PKU Alliance https://npkua.org/Education/About-PKU ...Read more

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How hard is it to test if you have pku?

Simple blood test: the test for PKU is a simple blood test. Testing for PKU is part of the screen done for metabolic disorders. ...Read more

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What is the definition or description of: PKU?

What is the definition or description of: PKU?

Genetic disorder: It is a congenital deficiency of an enzyme which digests a protein in milk causing a build-up of a substance that causes brain damage in infants. This disorder is tested for in all newborns and a special formula can prevent brain damage. ...Read more

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Could patients with pku have children?

Could patients with pku have children?

Yes: In fact, this is quite a big deal. If you are going to be a mother, you will need to manage your pku diet very carefully while you are pregnant, or the unborn child who actually does not have pku will still end up with permanent brain damage. ...Read more

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What are the signs and symptoms of PKU?

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. ...Read more

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Why must there be phenylalanine in the pku diet?

Why must there be phenylalanine in the pku diet?

Essential amino acid: We can not make our own phenylalanine so there must be some in our diet. In general, the idea is to consume only the amount of phenylalanine that's necessary for normal growth and body processes, but no more. ...Read more

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What is the prognosis for phenylketonuria (pku) patients?

Good if treated: Early and properly. There is risk of brain damage if a proper diet is not followed or if the diagnosis is delayed. See this site for more info. http://www.nlm.nih.gov/medlineplus/ency/article/001166.htm. ...Read more

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What vitamins do you take if you have pku?

Special product: Because the pku diet is so restricted, those with pku must take a special medical product that has the proper supplemental nutrients to support good health. There are several brands available. ...Read more

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How are abnormal pku/thyroid results relayed?

Varies: In texas the initial results are often faxed to the attending physician by 2 weeks of age when normal while abnormal results are sent out asap as an urgent fax or call. The parents may be contacted directly based on information obtained at the hospital.The notification will review the more specific confirmatory testing needed that is more accurate than the screening test. ...Read more

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Dr. Jeffrey Wint
73 doctors shared insights

Pku (Definition)

It is a congenital deficiency of an enzyme which digests a protein in milk causing a build-up of a substance that causes brain damage in infants. This disorder is tested for in all newborns and a special formula ...Read more