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Gaucher disease is a rare inherited metabolic disorder in which harmful fatty substances accumulate in the liver, spleen, lungs, and bones. This may result in enlarged spleen and liver, anemia and bruising, and bone fractures and deformities. Of the three major types of Gaucher disease, Type 1 does not cause neurological abnormalities, while Types 2 and 3 may have varying degrees of brain involv...

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, ...

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...

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 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...

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Full disease list by letter:
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