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

Β-Galactosidase staining assay It has been found that β-galactosidase is active at pH 6 only in senescent cells. The senescence galactosidase staining kit was used for measuring the activity of the β-galactosidase enzyme in REF cells. In short, cells were seeded in a 6 well plates and were cultured to get 70-80% confluency. After washing with PBS, the fixative solution, which includes 20% formaldehyde and 2% glutaraldehyde in 10X PBS, was added. Then cells were stained with β-galactosidase satin

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

Neonatal and Prenatal Screenings Neonatal and Prenatal Screenings are very important for the outlook on a child’s life. Not only are they critical for a child, but their families as well. These screenings have shaped how parents, caregivers, and children will adapt to a child who has difficulties. Rather it be during birth, after birth, or as soon as in the mother’s womb. If special needs are detected early enough as it can be, that gives the parents time to cope and react accordingly. Although these

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;

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

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