E74.810
Glucose transporter protein type 1 deficiency
Clinical Classification Guidelines
Inclusion Terms
- De Vivo syndrome
- Glucose transport defect, blood-brain barrier
- Glut1 deficiency
- GLUT1 deficiency syndrome 1, infantile onset
- GLUT1 deficiency syndrome 2, childhood onset
Medical Intelligence & Overview
GLUT1 deficiency syndrome (also known by several other names like De Vivo syndrome or Glucose transporter protein type 1 deficiency) is a rare neurological disorder caused by a problem with the way the body transports glucose to the brain. Since glucose is the brain's main fuel source, this condition can lead to a variety of neurological symptoms that affect development and daily functioning. It can start in infancy or childhood, depending on the specific type, and requires careful management to improve quality of life.
Causes & Symptoms
Clinical Causes: Genetic mutations affecting the SLC2A1 gene, which encodes the GLUT1 protein responsible for transporting glucose across the blood-brain barrier. Inheriting faulty genes from parents in an autosomal dominant pattern, though some cases may occur spontaneously. No environmental factors are known to cause GLUT1 deficiency; it is primarily a genetic condition.
Key Symptoms: Seizures, often difficult to control, including epilepsy that may begin in infancy or childhood. Developmental delays, such as delayed speech, motor skills, or intellectual progress. Difficulties with coordination and movement, including ataxia or tremors. Microcephaly, which is a smaller-than-normal head size, especially in infants. Poor muscle tone (hypotonia) and weakness. Behavioral challenges, such as ADHD-like symptoms or difficulties with attention. Drowsiness or lethargy in some cases. Poor feeding in infants, which can contribute to failure to thrive.
Diagnostic & Treatment
Diagnosis Path: Diagnosis typically involves a combination of clinical evaluation, genetic testing, and specialized tests such as cerebrospinal fluid (CSF) analysis. The testing looks for low glucose levels in the CSF and a decreased ratio of CSF glucose to blood glucose. Genetic analysis identifies mutations in the SLC2A1 gene. Brain imaging and EEGs may support the diagnosis, helping to confirm seizure activity connected to the disorder.
Treatment Protocols: While there is no cure for GLUT1 deficiency syndrome, treatment aims to manage symptoms and improve brain energy supply. Common approaches include: - **Ketogenic diet:** A high-fat, low-carbohydrate diet that provides ketones as an alternative fuel source for the brain. - **Medication:** Anti-epileptic drugs may be used to control seizures, although some may have limited effectiveness. - **Physical and occupational therapy:** To assist with motor skills and coordination. - **Developmental support:** Including speech therapy and behavioral interventions to assist learning and social skills. Regular monitoring by a multidisciplinary team is essential to adjust treatment plans and provide comprehensive care.
Clinical Advice & FAQs
Billing Guidance
Is E74.810 a billable ICD-10 code?
Yes, E74.810 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report E74.810?
Clinical documentation must specify the nature of Glucose transporter protein type 1 deficiency and any associated comorbidities for accurate reporting.
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