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Thursday, Aug 28, 2008 | 12:37 AM
Madisons Foundation - Moms And Dads In Search Of Needed Support
m-Power® Rare Pediatric Disease Database
Full disease list by letter:
3 | A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | R | S | T | U | V | W | X | Y | Z | All
3 | A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | R | S | T | U | V | W | X | Y | Z | All
G-6-PD Deficiency (G-6-PD)
Glucose-6-Phosphate Dehydrogenase Deficiency
Glucose-6-Phosphate Dehydrogenase (G-6-PD) deficiency is a hereditary enzyme deficiency of the red blood cells that predisposes the individual to developing hemolytic anemia. G-6-PD is an enzyme or protein involved in energy metabolism in red blood cells (RBCs) and is necessary for the prevention of cell damage. The activity of G-6-PD is highest in young RBCs and decreases with cell aging. A defic...
Galactosemia
Galactose-1-Phosphate Uridyl Transferase Deficiency, Galactokinase Deficiency, Galactose-6-Phosphate
Galactosemia is a rare, hereditary condition in which the body cannot break down galactose, a type of sugar that is produced when lactose from milk is digested. Instead of being broken down, galactose accumulates in the body and causes damage to the liver, eyes, and brain. There are 3 forms of this disease; the most common and severe type involves a deficiency in an enzyme called galactose-1-phosp...
Gardner Syndrome
Familial Adenomatous Polyposis (FAP) is a rare genetic disease characterized by multiple intestinal polyps (small growths in the intestine), which have a very high frequency of progression to cancer. Gardner syndrome is a variant of FAP. However, individuals with Gardner syndrome also have osteomas (tumors of the bone) especially located in the jaw bone, skull, and long bones, as well as skin an...
Gaucher's Disease
Gaucher’s Disease is a rare inherited metabolic disorder in which fatty substances accumulate in the liver, spleen, and bones. This may cause the spleen and liver to become enlarged, cause anemia and bruising, and can cause fractures and deformities of the bones.
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Gilbert Syndrome
Gilbert syndrome is an inherited disorder in which the liver cannot properly remove bilirubin from the body. Bilirubin is a pigment that is produced when old red blood cells die (a normal process). The liver normally helps clear bilirubin from the body by taking it out of the blood and transporting it into a substance called bile, which is removed through the urine and feces. In Gilbert syndrome, ...