Tuesday, January 22, 2008

Great - whipped Soy Cream

About a year ago I found this wonderful soy replacement for whipped cream at our grocery store. Both my kids, and both of us, love this stuff. It is called

"Soy Whip - Soyatoo!" It is made in Germany the company also has a website it is at www.soyatoo.com . I buy it here in PDX at New Seasons Market.

Monday, January 21, 2008

What is Galactosemia?

Galactosemia is a metabolic disorder affecting about 1:60,000. My husband and I are both carriers of this recessesive gene. We are the parents of two children with this disorder.

For those of you wondering...but what on earth is Galactosemia, below is the explanation from http://www.wikipedia.org/

Galactosemia is a rare genetic metabolic disorder which affects an
individual's ability to properly metabolize the sugar galactose.
Goppert first described the disease in 1917,[1] with its cause
as a defect in galactose metabolism being identified by a group led by Herman
in 1956.[2]
Its incidence is about 1 per 47,000 births (classic type). It is much rarer in Japan and much more common in Italy, specifically the traveler region. Galactosaemia is also very common within the Irish Traveller population. This is attributed to consanguinity within a relatively small gene pool...

Cause - Lactose in food (such as dairy products) is
broken down by the body into glucose and galactose.

In individuals with galactosemia, the enzymes needed for further metabolism of
galactose are severely diminished or missing entirely, leading to toxic levels
of galactose to build up in the blood, resulting in hepatomegaly (an enlarged liver), cirrhosis, renal failure, cataracts, and brain damage. Without treatment, mortality in infants with galactosemia is about 75%.
The 4th carbon on Galactose has an axial hydroxyl (-OH) group. This
causes Galactose to favor the open form as it is more stable than the closed
form. This leaves an aldehyde (O=CH-) group available to react with nucleophiles, particularly proteins which contain amino (-NH2) groups, in the body. This uncontrolled reactivity gives way to glycolation. Glycolation causes disease by altering the structure of proteins in ways that were not intended for biochemical processes.

Infants are now routinely screened for galactosemia in the United States, and the diagnosis is made while the person is still an infant.

The only treatment for classic galactosemia is eliminating lactose
and galactose from the diet. Even with an early diagnosis and a restricted diet,
however, some individuals with galactosemia experience long-term complications
such as speech difficulties, learning disabilities, neurological impairment (e.g. tremors, etc), and in girls, ovarian failure. These complications are treated if they appear in a manner similar to the way they would be treated in a non-galactosemic. Such complications have not been associated with Duarte galactosemia, and many individuals with Duarte galactosemia do not need to restrict their diet at all. Infants with classic galactosemia cannot be breast-fed due to lactose in human breast milk and are usually fed a soy-based formula.[3]

Galactosemia is sometimes confused with lactose intolerance, but galactosemia is a more serious condition. Lactose intolerant individuals have an acquired or inherited shortage of the enzyme lactase, and experience abdominal pains after ingesting dairy products, but no long-term effects. In contrast, a galactosemic individual who consumes galactose can cause permanent damage to their bodies.
Long term complication of galactosemia includes:
Speech deficits
Diminished bone

Premature ovarian

For a thorough
scientific overview of galactosemia, one can consult chapter 72 of OMMBID[4]. For
more online resources and references, see inborn error of

Source http://en.wikipedia.org/wiki/Galactosemia


Related Posts Plugin for WordPress, Blogger...