Genetic Disease Galactosemia

Audio Transcript Auto-generated

• 00:01 - 00:04

  My genetic disease project is over galactose anemia.

• 00:06 - 00:06

  What is galactose?

• 00:06 - 00:09

  EMEA galactose anemia is a disease in where the body is not

• 00:09 - 00:13

  able to produce or process energy from the sugar called galactose.

• 00:13 - 00:17

  When galactose imax ingest any foods or liquids that contain

• 00:17 - 00:19

  galactose, the sugars will build up in the blood.

• 00:20 - 00:22

  Galactose anemia literally means galactose in the blood.

• 00:25 - 00:31

  This disease is caused by mutations in the G. A. L. T G S. T A. L. K. I. And G A. L. E.

• 00:31 - 00:34

  Genes which are used to code for enzymes that process

• 00:34 - 00:37

  the galactose and turn it into a simple carbohydrate.

• 00:38 - 00:41

  This genetic diseases, an auto zonal recessive trait,

• 00:41 - 00:43

  which means at least two copies of this trade have to be

• 00:43 - 00:46

  passed down from your parents to be living with the disease.

• 00:47 - 00:49

  nothing is 100% sure of

• 00:50 - 00:53

  So whether or not, you know if you're going to connect

• 00:54 - 00:55

  contract a genetic trait

• 00:56 - 00:56

  or not,

• 00:58 - 01:01

  But based on history, if both parents are heterosexual, yes, for galactose anemia,

• 01:01 - 01:05

  then you have a 25% chance of inheriting this disease

• 01:05 - 01:06

  Based on the population as a whole.

• 01:06 - 01:11

  There is between a one and 30,000 to 60,000 chance of having this in new brunch.

• 01:15 - 01:20

  Glad to see me, affects more of your organ system rather than what you look like.

• 01:20 - 01:23

  But people with galactose anemia are often known for having cataracts,

• 01:23 - 01:27

  they can have a yellowing of the skin and often cloudy your white eyes.

• 01:27 - 01:32

  If a galactose sugar is consumed, then it will affect their amount of energy,

• 01:32 - 01:34

  they fail to gain weight and they have liver problems,

• 01:35 - 01:36

  most of

• 01:36 - 01:38

  most patients are known to have delayed

• 01:38 - 01:42

  development and intellectual disabilities or even speech difficulties

• 01:46 - 01:47

  like I previously said.

• 01:47 - 01:49

  If galactose is consumed,

• 01:49 - 01:51

  then it builds up in your blood and it can cause a lot of harm.

• 01:52 - 01:54

  Patients commonly have liver problems

• 01:54 - 01:56

  and intellectual abilities.

• 01:56 - 01:59

  They have a hard time gaining weight and

• 02:00 - 02:03

  I am the last side. They have many issues.

• 02:04 - 02:08

  It's usually diagnosed as a newborn. When you get screen tests.

• 02:09 - 02:10

  When blood tests are done,

• 02:10 - 02:15

  it will show high levels of galactose and that the enzyme activity is strictly low.

• 02:15 - 02:19

  So it's often found really early and

• 02:20 - 02:21

  it's not super harmful

• 02:27 - 02:31

  as a galactose. See me back, there is no cure or meds to take at the moment.

• 02:31 - 02:36

  The only way to avoid any problems as of right now is to go on an all galactose diet.

• 02:36 - 02:41

  It's a hard thing to do because galactus is in many foods like dairy products,

• 02:41 - 02:42

  honeys,

• 02:42 - 02:43

  celery,

• 02:43 - 02:46

  basil, paprika, kiwi, black pepper,

• 02:47 - 02:49

  fruits, cheese, and

• 02:50 - 02:51

  a lot of others.

• 02:56 - 02:59

  There is no current research being done on this disease because

• 02:59 - 03:01

  if you can avoid the sugar as much as you can,

• 03:02 - 03:06

  then most of the symptoms will not show or affect you too much.

• 03:07 - 03:10

  But something that I'd like to see done in the future is

• 03:11 - 03:12

  finding a med that can

• 03:13 - 03:14

  help or

• 03:14 - 03:16

  a way to fix the enzyme

• 03:16 - 03:17

  to where you can work

• 03:18 - 03:20

  galactus back into your diet.

• 03:23 - 03:25

  I don't know why this isn't showing,

• 03:25 - 03:30

  but my conclusion this condition leads to so much stress.

• 03:30 - 03:31

  And I'm sure

• 03:34 - 03:37

  I would be constantly worrying about what my child eats

• 03:37 - 03:39

  or if it might have galactose sugar in it,

• 03:39 - 03:42

  I would be cautious of everything.

• 03:42 - 03:45

  Something that would be encouraging and very thoughtful would be

• 03:45 - 03:50

  going on the diet with your child or family member. I think it would show

• 03:50 - 03:52

  that they aren't alone.

• 03:53 - 03:58

  I also found support groups in texas based area, in other states,

• 03:59 - 04:02

  UK area, europe and Australia

• 04:02 - 04:04

  advice I would give to someone who struggles

• 04:04 - 04:07

  with galactose anemia is that they're not alone.

• 04:08 - 04:11

  Whether that means there are tons of people who are supporting you

• 04:11 - 04:14

  or that there are many other people affected by the Gs.

• 04:14 - 04:15

  It still shows that

• 04:16 - 04:17

  there's people you can talk to

• 04:21 - 04:23

  and I don't know why that's not showing it either.