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Glucose Transporter Type 1 Deficiency Syndrome - MedlinePlus Genetics

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Last Updated: 08 July 2022

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GLUT1 deficiency syndrome

About 80% of those affected people have a form of the condition that is often described as common GLUT1 deficiency syndrome. Babies with common GLUT1 deficiency syndrome have a normal head size at birth, but skull and brain growth is often slower, resulting in an abnormally small head size. Individuals with this GLUT1 deficiency syndrome may have developmental delay or intellectual impairment. About ten percent of people with GLUT1 deficiency syndrome have a disorder commonly known as non-epileptic GLUT1 deficiency syndrome, which is usually less severe than the common form. People with a GLUT1 deficiency syndrome variant are infrequently diagnosed with abnormal red blood cells and have uncommon forms of a blood disorder known as anemia, which is characterized by a red blood cell deficit.

Source link: https://medlineplus.gov/genetics/condition/glut1-deficiency-syndrome

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions