ICD10 code of GLUT1 deficiency and ICD9 code

GLUT1 deficiency syndrome, also known as Glucose Transporter Type 1 Deficiency Syndrome, is identified by the ICD-10 code G40.42 (for GLUT1 deficiency syndrome epilepsy) or G93.49 (for other specified disorders of the brain), while it is categorized under ICD-9 code 345.80. These codes are essential for medical billing, insurance authorization, and clinical documentation for patients navigating the healthcare system with this rare metabolic condition.

How is GLUT1 deficiency classified for medical billing?

Because GLUT1 deficiency is a complex metabolic encephalopathy, coding can vary based on the primary clinical presentation, such as seizures or movement disorders. The ICD-10 code G40.42 is specifically used when GLUT1 deficiency manifests with epilepsy, which is a common hallmark of the condition. For cases primarily characterized by ataxia or other neurological symptoms, providers may utilize broader neurological codes. It is important to work with a billing specialist familiar with rare diseases to ensure that GLUT1 deficiency is accurately represented in your medical records.

What are the primary clinical features of GLUT1 deficiency?

GLUT1 deficiency occurs due to a defect in the SLC2A1 gene, which impairs glucose transport into the brain. Patients often present with a constellation of symptoms that require early intervention. Key clinical indicators include:

• Early-onset seizures (often starting in infancy)


• Complex movement disorders, including ataxia, dystonia, and chorea


• Developmental delays and cognitive impairment


• Macrocephaly or microcephaly depending on the specific mutation


• Symptoms that typically improve or worsen in relation to fasting or glucose intake

Is GLUT1 deficiency a hereditary condition?

In most cases, GLUT1 deficiency is caused by a *de novo* (spontaneous) mutation in the SLC2A1 gene, meaning it is not inherited from the parents. However, it can follow an autosomal dominant inheritance pattern, meaning a parent with the condition has a 50% chance of passing the gene mutation to their child. Genetic counseling is highly recommended for families affected by GLUT1 deficiency to understand recurrence risks and diagnostic options.

Next steps

• Consult a metabolic specialist or pediatric neurologist to confirm your diagnosis and treatment plan.


• Connect with the 30 members of the DiseaseMaps.org community who are living with GLUT1 deficiency to share experiences and coping strategies.


• Discuss the ketogenic diet with a specialized dietitian, as it is the primary standard-of-care treatment for GLUT1 deficiency.


• Register with the Glut1 Deficiency Foundation to stay updated on emerging research and clinical trials.

Medical disclaimer: This information is for educational purposes only and does not constitute medical advice; always consult with a qualified healthcare professional regarding your specific health needs.

References

• NIH Genetic and Rare Diseases Information Center (GARD): GLUT1 deficiency syndrome


• Orphanet: Glucose transporter type 1 deficiency syndrome (ORPHA:1375)


• OMIM (Online Mendelian Inheritance in Man): SLC2A1 gene (Entry #138140)


• Glut1 Deficiency Foundation: Clinical resources and patient support