ICD-10: E74.810

Clinical Description of ICD-10 Code E74.810: Glucose Transporter Protein Type 1 Deficiency

Overview

ICD-10 code E74.810 refers to Glucose Transporter Protein Type 1 Deficiency (GLUT1 deficiency syndrome), a rare genetic disorder that affects the transport of glucose across the blood-brain barrier. This condition is primarily caused by mutations in the SLC2A1 gene, which encodes the glucose transporter protein type 1 (GLUT1). The deficiency of this protein leads to inadequate glucose supply to the brain, resulting in various neurological symptoms.

Pathophysiology

GLUT1 is crucial for the transport of glucose into cells, particularly in the brain, where glucose is the primary energy source. In individuals with GLUT1 deficiency, the impaired transport mechanism results in low glucose levels in the cerebrospinal fluid (CSF) and brain, leading to energy deficits that can affect cognitive and motor functions. This condition is often characterized by a compensatory increase in ketone bodies, which the brain can utilize as an alternative energy source.

Clinical Features

The clinical presentation of GLUT1 deficiency can vary widely among affected individuals, but common symptoms include:

• Seizures: Often the first sign, particularly in infancy or early childhood.
• Developmental Delays: Delays in reaching developmental milestones, including motor skills and speech.
• Movement Disorders: Ataxia, dystonia, and other movement abnormalities may occur.
• Cognitive Impairment: Varying degrees of intellectual disability can be present.
• Behavioral Issues: Some patients may exhibit behavioral problems or psychiatric symptoms.

Symptoms typically manifest in infancy or early childhood, but milder forms may not be diagnosed until later in life.

Diagnosis

Diagnosis of GLUT1 deficiency is primarily based on clinical evaluation, supported by laboratory tests. Key diagnostic criteria include:

• Low CSF Glucose Levels: A hallmark of the condition is a significantly lower glucose concentration in the CSF compared to blood glucose levels.
• Genetic Testing: Identification of mutations in the SLC2A1 gene can confirm the diagnosis.
• Response to Ketogenic Diet: Many patients show improvement in symptoms when placed on a ketogenic diet, which provides an alternative energy source for the brain.

Management and Treatment

Management of GLUT1 deficiency focuses on symptomatic treatment and dietary interventions:

• Ketogenic Diet: A high-fat, low-carbohydrate diet can help increase ketone levels, providing an alternative energy source for the brain and alleviating some neurological symptoms.
• Antiepileptic Medications: These may be prescribed to manage seizures.
• Physical and Occupational Therapy: Supportive therapies can help improve motor skills and overall function.

Prognosis

The prognosis for individuals with GLUT1 deficiency varies. Early diagnosis and intervention, particularly with dietary management, can significantly improve outcomes. However, some individuals may continue to experience neurological challenges throughout their lives.

Conclusion

ICD-10 code E74.810 for Glucose Transporter Protein Type 1 Deficiency encapsulates a complex condition that requires a multidisciplinary approach for diagnosis and management. Understanding the clinical features, diagnostic criteria, and treatment options is essential for healthcare providers to optimize care for affected individuals. Early recognition and intervention can lead to better quality of life and functional outcomes for patients with this rare disorder.

Glucose transporter protein type 1 deficiency (GLUT1 deficiency syndrome) is a rare genetic disorder characterized by impaired glucose transport across the blood-brain barrier, leading to a range of neurological symptoms. The condition is associated with the ICD-10 code E74.810, which specifically identifies this deficiency. Below is a detailed overview of the clinical presentation, signs, symptoms, and patient characteristics associated with this condition.

Clinical Presentation

GLUT1 deficiency syndrome typically presents in infancy or early childhood, although milder forms may not be diagnosed until later in life. The clinical manifestations can vary significantly among patients, but they generally include neurological and developmental issues due to inadequate glucose supply to the brain.

Common Signs and Symptoms

1. Developmental Delays:
   - Children with GLUT1 deficiency often exhibit delays in reaching developmental milestones, such as sitting, walking, and talking. This can be attributed to the brain's insufficient energy supply during critical growth periods[1].

2. Seizures:
   - Seizures are a hallmark of GLUT1 deficiency, occurring in a significant number of patients. These seizures can be difficult to control and may present in various forms, including focal or generalized seizures[1][2].

3. Movement Disorders:
   - Patients may experience movement disorders, including ataxia (lack of voluntary coordination of muscle movements), dystonia (involuntary muscle contractions), and tremors. These symptoms can affect motor skills and overall mobility[1].

4. Cognitive Impairment:
   - Cognitive deficits are common, with many patients experiencing difficulties in learning and memory. The severity of cognitive impairment can vary widely among individuals[2].

5. Behavioral Issues:
   - Some patients may exhibit behavioral problems, including hyperactivity or attention deficits, which can complicate their overall management and quality of life[1].

6. Other Neurological Symptoms:
   - Additional symptoms may include headaches, fatigue, and episodes of confusion or altered consciousness, particularly during periods of fasting or illness when glucose levels may drop[2].

Patient Characteristics

• Age of Onset: Symptoms often manifest in infancy or early childhood, but some cases may not be recognized until later due to milder symptoms[1].
• Genetic Background: GLUT1 deficiency is caused by mutations in the SLC2A1 gene, which encodes the glucose transporter protein. This condition follows an autosomal dominant inheritance pattern, meaning that a single copy of the mutated gene can cause the disorder[2].
• Gender: There is no significant gender predisposition; both males and females are equally affected[1].
• Family History: A family history of neurological disorders may be present, particularly in cases where the condition is inherited[2].

Conclusion

GLUT1 deficiency syndrome, classified under ICD-10 code E74.810, presents a complex array of symptoms primarily affecting neurological function due to impaired glucose transport. Early diagnosis and intervention are crucial for managing symptoms and improving the quality of life for affected individuals. Treatment often involves dietary management, such as a ketogenic diet, which can help provide alternative energy sources for the brain. Ongoing research continues to explore the full spectrum of this condition and potential therapeutic approaches to enhance patient outcomes.

Glucose transporter protein type 1 deficiency, classified under ICD-10 code E74.810, is a rare genetic disorder that affects the transport of glucose across the blood-brain barrier. This condition is also known by several alternative names and related terms, which can help in understanding its implications and associations. Below are some of the key alternative names and related terms for this condition:

Alternative Names

1. Glut1 Deficiency Syndrome: This is the most commonly used alternative name, referring to the deficiency of the glucose transporter type 1 (GLUT1) protein, which is crucial for glucose transport in the brain[3].
2. Glucose Transporter Type 1 Deficiency: A straightforward alternative that emphasizes the specific transporter affected by the deficiency[3].
3. GLUT1 Deficiency: A more abbreviated form that is often used in clinical and research contexts[3].

Related Terms

1. Hypoglycorrhachia: This term refers to low glucose levels in the cerebrospinal fluid, which is a characteristic finding in patients with GLUT1 deficiency[3].
2. Seizure Disorders: Many individuals with GLUT1 deficiency experience seizures, making this term relevant in clinical discussions[3].
3. Neurological Impairment: This term encompasses the various neurological symptoms that can arise due to insufficient glucose transport to the brain[3].
4. Metabolic Disorder: GLUT1 deficiency is classified as a metabolic disorder, as it involves the metabolism of glucose and its transport mechanisms[3].

Conclusion

Understanding the alternative names and related terms for ICD-10 code E74.810 is essential for healthcare professionals, researchers, and patients alike. These terms not only facilitate better communication but also enhance the understanding of the condition's implications and associated symptoms. If you need further information or specific details about the condition, feel free to ask!

Glucose transporter protein type 1 deficiency (GLUT1 DS) is a rare genetic disorder that affects glucose transport across the blood-brain barrier, leading to various neurological symptoms. The diagnosis of GLUT1 DS, which corresponds to the ICD-10 code E74.810, involves several criteria and diagnostic approaches.

Diagnostic Criteria for GLUT1 Deficiency

Clinical Presentation

The initial step in diagnosing GLUT1 DS is a thorough clinical evaluation. Patients often present with a range of neurological symptoms, which may include:

• Seizures: Often the first symptom, particularly in infancy or early childhood.
• Developmental Delays: Delays in reaching developmental milestones are common.
• Movement Disorders: These may include ataxia or dystonia.
• Cognitive Impairment: Varying degrees of intellectual disability can be observed.
• Other Symptoms: These may include behavioral issues, migraines, and visual disturbances.

Laboratory Testing

1. CSF Analysis: A key diagnostic test is the analysis of cerebrospinal fluid (CSF). In GLUT1 DS, the CSF glucose concentration is typically low, often less than 40% of the serum glucose level. This finding is crucial for diagnosis[6].

2. Genetic Testing: Identification of mutations in the SLC2A1 gene, which encodes the GLUT1 protein, is definitive for diagnosis. Genetic testing can confirm the presence of pathogenic variants associated with GLUT1 DS[6].

3. Blood Tests: While not diagnostic on their own, blood tests may be performed to rule out other metabolic disorders. These tests can include measuring serum glucose levels and other metabolic markers[6].

Imaging Studies

• MRI of the Brain: Neuroimaging may show nonspecific findings, but it can help rule out other conditions. In some cases, MRI may reveal changes consistent with metabolic disorders, although it is not specific for GLUT1 DS[6].

Response to Treatment

A positive response to a ketogenic diet can also support the diagnosis. Patients with GLUT1 DS often show significant improvement in symptoms when placed on a ketogenic diet, which provides an alternative energy source for the brain[6].

Summary

In summary, the diagnosis of GLUT1 deficiency (ICD-10 code E74.810) is based on a combination of clinical symptoms, CSF glucose levels, genetic testing, and the patient's response to dietary management. Early diagnosis and intervention are crucial for improving outcomes in affected individuals. If you have further questions or need more detailed information, feel free to ask!

Glucose transporter protein type 1 deficiency (GLUT1 deficiency syndrome), classified under ICD-10 code E74.810, is a rare genetic disorder that affects glucose transport across the blood-brain barrier, leading to neurological symptoms. The management of this condition primarily focuses on dietary interventions and symptomatic treatment. Below is a detailed overview of the standard treatment approaches for GLUT1 deficiency.

Dietary Management

Ketogenic Diet

The cornerstone of treatment for GLUT1 deficiency is the ketogenic diet, which is high in fats and low in carbohydrates. This diet aims to provide an alternative energy source for the brain, primarily through ketone bodies, which can be utilized when glucose transport is impaired. The ketogenic diet has been shown to improve neurological function and reduce seizures in affected individuals[3].

• Types of Ketogenic Diets:
• Classic Ketogenic Diet: A strict ratio of fats to proteins and carbohydrates, typically 4:1 or 3:1.
• Modified Atkins Diet: A less restrictive version that allows for more carbohydrates while still promoting ketosis.
• Medium-Chain Triglyceride (MCT) Diet: Incorporates MCT oil, which can be more easily converted into ketones.

Monitoring and Adjustments

Regular monitoring by a healthcare team, including a dietitian, is essential to ensure nutritional adequacy and to adjust the diet based on the patient's response and growth needs. Blood ketone levels and glucose levels are typically monitored to assess the effectiveness of the diet[4].

Pharmacological Treatments

While dietary management is the primary approach, certain medications may be used to manage specific symptoms associated with GLUT1 deficiency:

• Antiepileptic Drugs: If seizures occur, antiepileptic medications may be prescribed. The choice of medication depends on the type of seizures experienced by the patient[5].
• Other Symptomatic Treatments: Depending on the individual’s symptoms, additional medications may be used to address issues such as movement disorders or behavioral problems.

Supportive Therapies

Physical and Occupational Therapy

Patients may benefit from physical and occupational therapy to improve motor skills and daily functioning. These therapies can help address developmental delays and improve quality of life[6].

Educational Support

Children with GLUT1 deficiency may require special educational support to accommodate learning difficulties. Individualized education plans (IEPs) can be developed to support their unique learning needs.

Conclusion

In summary, the standard treatment for GLUT1 deficiency syndrome primarily revolves around the implementation of a ketogenic diet, which serves to provide an alternative energy source for the brain. Alongside dietary management, pharmacological treatments may be utilized to control seizures and other symptoms, while supportive therapies can enhance overall development and quality of life. Ongoing research continues to explore additional therapeutic options and the long-term outcomes of current treatment strategies, emphasizing the importance of a multidisciplinary approach in managing this complex condition[7].

For individuals diagnosed with GLUT1 deficiency, close collaboration with healthcare providers is crucial to tailor treatment plans that meet their specific needs and to monitor progress effectively.