Galactosemia Name: Olivia Taylor, Julia D, and Varsha M. Date: January 28, 2010 Period: 3

Summary of Galactosemia Is an inherited disease that makes the host unable to metabolize galactose. Galactose- is a simple sugar, found in ½ of milk. People with Galactosemia either don’t have, or lack the enzyme (GALT) that helps break down galactose. Infants that inherit Galactosemia who are feed dairy/milk products will have jaundice, vomiting, lethargy, and also mental retardation, cirrhosis, and kidney failure can occur. Did You Know Children with Galactosemia have lower (IQ) levels then their siblings, and that most girls with it, can’t conceive naturally. Though boys have normal testicular function.

.Galactosemia gene is located on the chromosome 9.

Mode of Inheritance 1.How do you get this disorder? – Autosomal recessive pattern – To get this disorder, a child must get one defective gene from each parent – If the child inherits one normal & one bad gene, they are okay. But can still pass the bad one to their kids. This gives their child another possibility of having Galactosemia. 2.What’s an Autosomal Recessive? – Is when a child has to get a copy of a gene from each parent to have that trait 3.What’s an Autosomal Dominant? – Is when a child has to only get one defected gene from one parent to inherit a disease 4.What’s Sex linked/X-linked? Is when a gene gets carried on a sex chromosome, especially an x-chromosome  XX- Female  XY-Male  Determines sex & sex characteristics

Punnett squares to show the possibility of each child receiving the galactosemia gene gg= homozygous recessive (has the complete galactosemia gene) GG= homozygous dominant (does not have the gene at all) Gg= heterozygous dominant (Has a part of the gene but it does not show).Remember each punnett square is the possibility for EACH child to get the galactosemia gene!.The Father is on the top of the punett square and the mother is on the left of the punnett square. GG g Gg g Gg G GG Gg g gg Father MOTHErMOTHEr MOTHERMOTHER