Galactosemia Galactosemia is a genetically inherited metabolic disorder. This disorder leaves the disabled with a partial or complete lack of the enzyme Galactose – 1 – Phosphate Uridyl Transferase (GALT). This enzyme is found in the bloodstream and it is used for breaking down the sugar galactose. This disorder comes in two different variations. Though there is more than one type, it is still rare, having only 1 in 80,000 births being affected by the disorder. Classic Galactosemia is the first and
Galactosemia: A Rare Milk Sugar Disorder Galactosemia is a rare congenital disorder which affects the body’s inability to convert galactose into glucose. Galactose is a type of sugar, which is a breakdown product of lactose. Lactose is found in milk and milk products, including breast milk. Given that the galactose can not be broken down, it builds up in the body and acts as a poison that can cause serious damage to it‘s carrier(“galactosemia“). “As milk is important to a baby’s diet, early diagnosis
There are many important things in our life that if we did not have them, we would die. One that not many people would think about is metabolism. The chemical reactions happening in our body are essential to life on earth. Metabolism can be a very confusing subject with many different parts to it. The process of getting energy from food during metabolism, diseases that are a part of it, and the exercise that affects it are three main parts. Metabolism is “all the chemical reactions that happen in
An example of this is galactosemia which causes the body to be unable to break down galactose. Effects of galactosemia may cause mental retardation, cataracts, organ failure and even death if the disorder is untreated. Early detection of this disorder by prenatal genetic testing would give the opportunity for the baby to be placed on a diet that is free of galactose after birth, preventing the serious complications of galactosemia
What is hepatic cirrhosis? According to the medical dictionary hepatic cirrhosis is when scar tissue replaces the liver’s healthy tissue. This disease changes the structure of the liver and blood vessels that nurture it. It reduces the liver’s capability to produce proteins and process hormones, nutrients, medications, and poisons. Cirrhosis is an illness that gets worse over time and possibly can become life threatening. This serious illness is ranked as the ninth leading cause of death in the U
With a New York bestseller book (The Language of God) already under his belt, Dr. Collins is no stranger to the book writing process. The second to a series of books named “The language of…”; “The Language of Life” is the first one to focus on the theme of personalized medicine in the modern world. Both “The language of God” and “The Language of Science and Faith” focus on reconciliate science and religion, from a scientist stand point. Francis S. Collins is a renowned geneticist who originally became
Monosaccharide also called SIMPLE SUGAR, any of the basic compounds that serve as the building blocks of carbohydrates. Monosaccharides are polyhydroxy aldehydes or ketones; that is, they are molecules with more than one hydroxyl group (-OH), and a carbonyl group (C=O) either at the terminal carbon atom (aldose) or at the second carbon atom (ketose). The carbonyl group combines in aqueous solution with one hydroxyl group to form a cyclic compound (hemi-acetal or hemi-ketal). Monosaccharides are
Background and objectives: Many liver diseases are accompanied by jaundice. Differentiation of cholestatic from non-cholestatic jaundice is important. Cholestatic jaundice most probably occurs due to a pathological condition and the most frequent causes in early infancy are neonatal hepatitis and biliary atresia in early life. Early diagnosis and treatment of infantile cholestasis can improve prognosis of liver diseases by prevention of the complications of these disorders. Patients and Methods: