Galactosemia

Galactosemia missing works cited Galactosemia is a potentially fatal genetic defect that prevents the body from metabolizing milk. It is fatal because an infant's early diet consists mostly of milk. The disease does not usually hinder the development of children in North America or Europe; it is a not-uncommon cause of death, however, in third-world nations, where lactose-free milk is not readily available. So, what impacts people afflicted with galactosemia more, the fact that they have

constantly running, they couldn’t find what was wrong with me. The next day, a young intern in the NICU acted on something he remembered from Medical School. He found the answer when he got the blood test back- I was a 1 in 80,000 baby born with Galactosemia type I.

Classic Galactosemia, Type 1, is a complex disorder and the exact pathophysiology has is controversial. However, it is most commonly accepted that the main factor is the accumulation of galactose-1-phosphate, gal-1P, which is due to the impairment of galactose-1-phosphate uridylytransferase, GALT. This reaction uses the GALT enzyme as a part of the Leloir pathway which enables the body to process galactose. The GLAT enzyme itself belongs to the histidine triad super family and is a member of branch

comprise of pain in extremities during childhood, with heart and kidney disease and stroke in adulthood. • Krabbe disease- It refers to progressive damage of nerve, delayed development in young children and occasional adverse effect on adults. Galactosemia Impaired break down of sugar galactose results in vomiting, jaundice and enlargement of liver post breast feeding or forluma feeding to a newborn. Maple syrup urine disease In this disease, deficiency of BCKD enzyme results in creation of amino

The autosomal recessive disorders examples are Albinism (lack of pigment in skin, hair and eyes), Cystic fibrosis (excess mucus in lungs, tract to the liver; increased susceptibility to infection; death in infancy unless treated), Galactosemia (accumulation of galactose in tissues), Phenylketonuria (PKU) (lack of normal skin), Sickle-cell disease (sickled red blood cells; damage to many tissues) and Tay- Sachs disease (lipid accumulation in brain cells; mental deficiency; blindness;

Enzymes are a substance mostly known as macromolecular biological catalysts. These substances are produced by a living organism that kind of acts as a catalyst to bring a reaction to them. Enzymes have occurred more than 5,000 years ago, as humans stored milk in animal stomachs, which happened to contained enzymes that turned the milk into cheese. The process begins when substrates, the molecules in a cell, are converted into new different molecules from the enzymes, these are known as the products

It can indicate what disease or condition a patient may have; from the identification of certain sugars present in the urine; for example, classic galactosemia is a disorder due to deficiency of the enzyme GALT (galactose-1-phosphate uridyl transferase). This causes the accumulation of galactose, and can result in severe diarrhea, vomiting, jaundice and the formation of cataracts due to galacitol accumulation

Genes and Their Control Over Humans ' They (genes) are in you and me; they created us, body and mind' This statement by Richard Dawkins poses the question of how much and in what way our genes control us, whether they are responsible for our hereditary features only, or for all behavior and environmental aspects of our persona. A reductionist view implies that only specific tasks are carried out by the genes.We know that most genes synthesize for proteins

tropical island, until two years ago when I moved to the US. Hurricanes in my memory, when growing up, were school time off. It was also seen as time to spend with family, watching the wind move the trees and rain fall. Having a strict diet due to galactosemia, I didn’t find it enjoyable eating canned meat and crackers. So far P.R. has been lucky, almost twenty years of avoiding even a category one force hurricane. Until now, hurricanes seem to change their path up to two hundred miles away. Many answered

Breast Feeding and Bottle Feeding in Relation to Nursing Practice By Stephen Samson 201201274 Presented to Dr. Judith Cormier Nursing 355:10 Perinatal Nursing Department of Nursing St. Francis Xavier University October 7, 2014 Abstract Research has shown that nursing implications have an impact on breast-feeding and bottle-feeding; the main three aspects that allow nurses to have an impact are teaching, collaboration, and support. Under these three sections there will be discussion