6678559
Description
Mind Map by lolita klol, updated more than 1 year ago
|
Created by lolita klol
over 9 years ago
|
|
it's all in the genes
- what is galactose?
- Galactose is a 6-carbon monosaccharide
In milk and other dairy products
- uses:
- Convert to glucose for ATP
- makes glycolipids for growth
- makes glycoproteins for ABO blood
group sugars
- Convert to glucose for ATP
- uses:
- Galactose is a 6-carbon monosaccharide
In milk and other dairy products
- what is galactosemia?
- an autosomal recessive disorder that
affects how the body processes a
simple sugar called galactose.
- types:
- Type I (Classic Galactosemia)
- lack of GALT(Galactose-1-phosphate
uridylyltransferase) enzyme
- due to
- mutation of the gene encoding
galactose-1-phosphate uridyltransferase.
- Gene galactose-1-phosphate uridyltransferase has
11 exons distributed across 4kb of DNA.
- nearly all galactosemia patients have a
single missense mutation in exon 6.
- how exon 6 in a gene deleted?
understanding gene expression
- how exon 6 in a gene deleted?
understanding gene expression
- nearly all galactosemia patients have a
single missense mutation in exon 6.
- Gene galactose-1-phosphate uridyltransferase has
11 exons distributed across 4kb of DNA.
- mutation of the gene encoding
galactose-1-phosphate uridyltransferase.
- signs and symptoms
- hypoglycemia
- Galactose can not be
converted to glucose
- Galactose can not be
converted to glucose
- Cataract.
- Galactose is reduced by aldose
reductase in the eye to Galactitol
- Galactose is reduced by aldose
reductase in the eye to Galactitol
- jaundice
- less UDP-glucose=less
UDP-glucuronic acid=less ability to
conjugate the bilirubin=increase in
unconjugated bilirubin in blood
- less UDP-glucose=less
UDP-glucuronic acid=less ability to
conjugate the bilirubin=increase in
unconjugated bilirubin in blood
- others:
- hypoglycemia
- lack of GALT(Galactose-1-phosphate
uridylyltransferase) enzyme
- Type II (Galactokinase deficiency)
- lack of GALK enzyme
- lack of GALK enzyme
- Type III (Galactose epimerase deficiency)
- lack of GALE enzyme.
- lack of GALE enzyme.
- Type I (Classic Galactosemia)
- types:
- galactosemia vs.
lactose intolerance
- tests:
- Blood test
- Galactose & galactose-1-P are high
- Glucose low
- Liver Function Test (LFT)- increased liver enzymes AST, SGOT.
- Jaundice – bilirubin is high
- Galactose & galactose-1-P are high
- urine test
- FeCl3 –ve (For amino acids)
- red-brown ppt
- red-brown ppt
- Reducing substances +ve
(galacotse & galactose-1-P)
- FeCl3 +ve (For galactosemia)
- green ppt
- green ppt
- FeCl3 –ve (For amino acids)
- prenatal screening
- Prenatal diagnosis of the carrier state
- Prenatal diagnosis of the carrier state
- Blood test
- treatments:
- Galactose-free-diet
- early diagnosis and compliance with
restricted diet.
- importance of compliance?
- Not following the doctor's advice can result in
increased hospital stays and delays in recovering
from illnesses, or increase in the severity of disease especially galactosemia.
- Not following the doctor's advice can result in
increased hospital stays and delays in recovering
from illnesses, or increase in the severity of disease especially galactosemia.
- importance of compliance?
- enzyme replacement and
organ transplantation.
- Special lactose-free formula
- Calcium supplements
- Galactose-free-diet
- an autosomal recessive disorder that
affects how the body processes a
simple sugar called galactose.
- some mendelians definitions
- Homozygous
- alleles are the same
- alleles are the same
- Heterozygous
- alleles are the different
- alleles are the different
- autosomal inheritance
- genes from chromosomes 1-22
- genes from chromosomes 1-22
- x linked inheritance
- genes of the x and y
sex chromosomes
- genes of the x and y
sex chromosomes
- dominance inheritance
- trait is expressed in a
heterozygote
- trait is expressed in a
heterozygote
- recessive inheritance
- trait is expressed in a homozygote
- trait is expressed in a homozygote
- mendelians modes of inheritance
- autosomal dominant
- autosomal recessive
- x-linked
dominant(very
rare)
- x-linked recessive
- autosomal dominant
- Homozygous
Media attachments
Want to create your own Mind Maps for free with GoConqr? Learn more.