Doctor insights on:
Pku And Breastfeeding Quadruplets
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
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
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
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 moreSee 2 more doctor answers
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 moreSee 1 more doctor answer
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
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
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?
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 moreSee 1 more doctor answer
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
What is pku?
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 moreSee 2 more doctor answers
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 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
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 moreSee 1 more doctor answer
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 moreSee 1 more doctor answer