Glucose transporter protein type 1 deficiency
ICD-10 E74.810 is a billable code used to indicate a diagnosis of glucose transporter protein type 1 deficiency.
Glucose transporter protein type 1 deficiency (GLUT1 deficiency syndrome) is a rare genetic metabolic disorder caused by mutations in the SLC2A1 gene, which encodes the glucose transporter protein type 1. This condition leads to impaired glucose transport across the blood-brain barrier, resulting in insufficient glucose availability for brain metabolism. Clinically, patients may present with a range of neurological symptoms, including developmental delays, seizures, movement disorders, and cognitive impairment. The onset of symptoms typically occurs in infancy or early childhood, and the severity can vary widely among affected individuals. Diagnosis is often confirmed through genetic testing, cerebrospinal fluid analysis showing low glucose levels, and neuroimaging studies that may reveal structural brain abnormalities. Management primarily focuses on dietary modifications, such as a ketogenic diet, which can help provide alternative energy sources for the brain. Early diagnosis and intervention are crucial for improving outcomes and quality of life for affected individuals.
Detailed neurological assessments, genetic testing results, and treatment plans.
Evaluation of developmental delays, seizure management, and cognitive assessments.
Ensure comprehensive documentation of neurological symptoms and their impact on daily functioning.
Genetic testing results, family history, and counseling notes.
Assessment of family members for carrier status and genetic counseling for affected families.
Document the rationale for genetic testing and the implications for family planning.
Used when confirming a diagnosis of GLUT1 deficiency.
Document the rationale for testing and results.
Genetic specialists should ensure comprehensive family history is included.
Common symptoms include developmental delays, seizures, movement disorders, and cognitive impairment, often presenting in infancy or early childhood.
Diagnosis is typically confirmed through genetic testing, cerebrospinal fluid analysis showing low glucose levels, and neuroimaging studies.
