[blparent] PKU baby

Nadia Cioffi via blparent blparent at nfbnet.org
Thu May 29 23:55:49 UTC 2014


Phenylketonuria: The inherited inability to metabolize (process) the essential amino acid phenylalanine due to complete or near-complete deficiency of the enzyme phenylalanine hydroxylase.

Newborns are screened for phenylketonuria (PKU) by a blood test, usually with the Guthrie card bloodspot obtained from a heelprick.

Treatment is with a special diet low in phenylalanine. The goal is to normalize the levels of phenylalanine and tyrosine in the blood to prevent brain damage. Failure of treatment results in profound irreversible mental retardation, microcephaly (an abnormally small head), epilepsy, and behavior problems. It is clear that if the diet is not followed closely, especially during childhood, some impairment is inevitable. Maternal phenylketonuria requires a diet low in phenylalanine.

Phenylketonuria is inherited in an autosomal recessive manner, as are lesser degrees of phenylalanine hydroxylase deficiency. Phenylketonuria is abbreviated and commonly referred to as PKU.



I googled the term used by typing Define: PKU. This came with medical related information. The text was copied from: http://www.medicinenet.com/script/main/mobileart.asp?articlekey=4869&page=2

Once you know how this defined you can screech for information you want on this topic. This all know, I'd look up this relates to medical issue to understand. 



Hope this a start,   



On May 29, 2014, at 7:04 PM, Sharon Howerton via blparent <blparent at nfbnet.org> wrote:

From what the mom told me, her baby has an inability to absorb protein so
the amount of protein she needs is only what the body has lost. I really
will have to learn more.

-----Original Message-----
From: blparent [mailto:blparent-bounces at nfbnet.org] On Behalf Of Jodie and
Kahlan via blparent
Sent: Thursday, May 29, 2014 6:00 PM
To: blparent at nfbnet.org
Subject: Re: [blparent] PKU baby

What's PKU?

-- 
Hugs from Jodie and kahlan
"Gratitude is the elixir of life"
unknown


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