Galactosemia-Ventura

Galactosemia

**Description: ** Galactosemia is a disease in which the body is unable to use the sugar galactos. People that have this disease can not fully break down sugar galactose, Galactose makes up some of the sugar found in milk. Humans or animals with Galactosemia cannot tolerate any milk or milk-products at all. If an infant is given milk substances, the Galactose can damage the liver, brain, kidneys and eyes.

**Inheritance: ** This disease is passed down through families. Most common form of getting Galactosemia is through in an autosomal recessive pattern. About one out of every sixty thousand births this disease occurs among caucasions. To get Galactosemia, the child must inherit one defective gene from each parent; inheriting one normal gene and one mutated gene makes a person a carrier. Carriers can, then, pass on a mutated gene to their children.

**Symptoms: ** Some symptoms of this disease include: · Mental Retardation · Irritability · Vomiting · Poor feeding · Poor weight gain · Yellow skin and whites of eyes · Poor growth · Kidney Failure These are just some of the symptoms that are possible if you have Galactosemia. You are most likely not going to have all of these symptoms but you may have a combination of them, or just one.

**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Daily Life: ** media type="custom" key="9495826"

**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Diagnosis: ** <span style="color: black; font-family: 'Times','serif'; font-size: 12pt; line-height: 14.25pt; margin: 0in 0in 0pt;">There are tests that can be taken to see if you have this disease. The following bullets are tests that can be conducted:

<span style="color: black; font-family: 'Times','serif'; font-size: 12pt; line-height: 14.25pt; margin: 0in 0in 0pt;">• “Blood culture for bacteria infection (E. coli sepsis)”

<span style="color: black; font-family: 'Times','serif'; font-size: 12pt; line-height: 14.25pt; margin: 0in 0in 0pt;">• “Enzyme activity in the red blood cells”

<span style="color: black; font-family: 'Times','serif'; font-size: 12pt; line-height: 14.25pt; margin: 0in 0in 0pt;">• “Ketones in the urine”

<span style="color: black; font-family: 'Times','serif'; font-size: 12pt; line-height: 14.25pt; margin: 0in 0in 0pt;">• “Prenatal diagnosis by directly measuring the enzyme galactose-1-phosphate uridyl transferase”

<span style="color: black; font-family: 'Times','serif'; font-size: 12pt; line-height: 14.25pt; margin: 0in 0in 0pt;">•"Reducing substances" in the infant's urine, and normal or low blood sugar while the infant is being fed breast milk or a formula containing lactose”

**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Treatment: ** <span style="color: black; font-family: 'Times','serif'; font-size: 12pt; line-height: normal; margin: 0in 0in 0pt;">This disease can be treated by completely avoiding ALL milk-containing products, and other foods that contain galactose for life. Instead of milk, infants can be fed with: · <span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Soy formula · <span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Formula based on meat · <span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">A formula that is lactose-free

**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Research: ** <span style="color: black; font-family: 'Times','serif'; font-size: 12pt; line-height: normal; margin: 0in 0in 0pt;">Research is stating that you must know your family history in case anyone in your family has come across this disease. Also, always make sure to have blood tests done for Galactosemia if the new born baby is tested positive. To prevent it, you must avoid all milk products. Though, even by avoiding all milk products, it is still possible to get this disease.

**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Punnett Square: **

**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Pedigree Chart: **

**<span style="color: black; font-family: 'Times New Roman','serif';">﻿ ****<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Resources: **

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