Summary

MedlinePlus is an online health information resource. It is a service of the National Library of Medicine (NLM), the world's largest medical library, which is part of the National Institutes of Health (NIH). To promote the transmission of knowledge, this entry collection contains information about the effects of genetic variation on human health transferred from MedlinePlus.

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Topic Review
TUBB4A Gene
Tubulin beta 4A class IVa.
  • 390
  • 23 Dec 2020
Topic Review
Glycogen Storage Disease Type IV
Glycogen storage disease type IV (GSD IV) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles. There are five types of GSD IV, which are distinguished by their severity, signs, and symptoms.
  • 444
  • 23 Dec 2020
Topic Review
Glycogen Storage Disease Type IX
Glycogen storage disease type IX (also known as GSD IX) is a condition caused by the inability to break down a complex sugar called glycogen. The different forms of the condition can affect glycogen breakdown in liver cells or muscle cells or sometimes both. A lack of glycogen breakdown interferes with the normal function of the affected tissue.
  • 336
  • 23 Dec 2020
Topic Review
TUBB3 Gene
Tubulin beta 3 class III.
  • 513
  • 23 Dec 2020
Topic Review
TUBB2B Gene
Tubulin beta 2B class IIb.
  • 457
  • 23 Dec 2020
Topic Review
Glutaric Acidemia Type II
Glutaric acidemia type II is an inherited disorder that interferes with the body's ability to break down proteins and fats to produce energy. Incompletely processed proteins and fats can build up in the body and cause the blood and tissues to become too acidic (metabolic acidosis).
  • 323
  • 23 Dec 2020
Topic Review
Glutaric Acidemia Type I
Glutaric acidemia type I (also called glutaric aciduria type I) is an inherited disorder in which the body is unable to process certain proteins properly. It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids.
  • 422
  • 23 Dec 2020
Topic Review
Glutamate Formiminotransferase Deficiency
Glutamate formiminotransferase deficiency is an inherited disorder that affects physical and mental development. There are two forms of this condition, which are distinguished by the severity of symptoms.
  • 462
  • 23 Dec 2020
Topic Review
Glucose-Galactose Malabsorption
Glucose-galactose malabsorption is a condition in which the body cannot take in (absorb) the sugars glucose and galactose, which primarily results in severe diarrhea.
  • 622
  • 23 Dec 2020
Topic Review
TUBA1A Gene
Tubulin alpha 1a.
  • 376
  • 23 Dec 2020
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