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Wednesday, Nov 19, 2008 | 03:31 PM
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
Glutaric Acidemia Type I
Glutaricaciduria I, GA-I, Glutaryl-CoA Dehydrogenase deficiency
Glutaric academia type I is an inborn error of metabolism that results from a deficiency of a mitochondrial enzyme named Glutaryl-CoA dehydrogenase. When this enzyme is missing, or not fully active, certain amino acids from the diet cannot be properly processed in the body. This results in a build-up of the amino acids named lysine, hydroxylysine, and tryptophan. These substances are toxic to the...
Glycogen Storage Disease Type 1a (GSD 1)
Von Gierke Disease
Von Gierke disease, also known as glycogen storage disease type 1a (GSD 1), is a member of a family of metabolic diseases where the body is unable to use its own sugar stores. In the case of GSD 1, the body is missing an enzyme known as glucose-6-phosphatase which breaks down stored sugar into sugar which you can use for energy, and as a result, these patients tend to have low blood sugar (hypogly...
Glycogen Storage Disease Type 1B
GSD1B, glucose-6-phosphate transport defect)
Glycogen storage disease type 1b is an autosomal recessive genetic disorder classified as an inborn error of glycogen metabolism. It occurs because a protein, called glucose-6-phosphate transporter (G6P transporter), does not function properly due to a mutation in the gene that encodes it. The consequence of this is that glucose, our main source of energy, which is stored in the cells of the liver...
Glycogen Storage Disease Type V
Glycogenosis Type V, McArdle Disease,
Muscle Phosphorylase Deficiency, Myophosphorylase Deficiency
Glycogen Storage Disease Type V (GSD-V) is an autosomal recessive metabolic disorder characterized by the loss of the enzyme that breaks down glycogen, a major source of energy for muscles. As a result, patients with GSD-V are not able to utilize their glycogen stores and will present clinically with muscle pain, cramps, and stiffness during exercise.
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Glycogen Storage Disease, Type 0
Liver Glycogen Synthase Deficiency
Glycogen Storage Disease is a family of genetic diseases involving the metabolism of glycogen (a big sugar molecule) in the body. It has numerous types, each with its own symptoms and characteristics. Glycogen Storage Disease type 0 (GSD-0) is caused by a defective enzyme in the liver of the affected child. It often causes a large liver, morning fatigue and sometimes seizures. Undiagnosed or u...