GLUTpuutteet

GLUTpuutteet is a Finnish term that translates to "GLUT deficiencies" or "GLUT defects." It refers to a group of rare genetic disorders that affect the function of glucose transporter proteins, primarily GLUT1. These transporters are crucial for moving glucose, the body's main energy source, across cell membranes, especially into the brain.

The most common and well-known condition associated with GLUTpuutteet is GLUT1 Deficiency Syndrome (GLUT1-DS). In GLUT1-DS, mutations in the SLC2A1 gene impair the function of the GLUT1 transporter. This leads to a severe shortage of glucose reaching the brain, causing a range of neurological symptoms. These symptoms often begin in infancy and can include developmental delays, intellectual disability, seizures, movement disorders, and a characteristic small head size (microcephaly).

Diagnosis of GLUTpuutteet typically involves clinical evaluation of symptoms, genetic testing to identify mutations in the SLC2A1 gene, and biochemical tests such as measuring glucose levels in cerebrospinal fluid. Treatment for GLUT1-DS primarily involves a ketogenic diet. This diet, which is very high in fat and very low in carbohydrates, forces the body to produce ketones, which can be used by the brain as an alternative energy source in the absence of sufficient glucose. While the ketogenic diet can significantly improve symptoms, it does not cure the underlying genetic defect. Research is ongoing to explore other potential therapeutic approaches. GLUTpuutteet highlights the critical role of glucose transport in normal brain function and development.