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Metabolic encephalopathy — Clinical Guidelines

Overview

Metabolic encephalopathy refers to altered mental status resulting from metabolic disturbances, including hyperammonemia due to nitrous oxide exposure and deficiencies in glucose transport into the brain, such as in Glucose Transporter Type 1 Deficiency Syndrome (Glut-1 DS). 1 2 3

Diagnosis

Clinical Presentation: Confusion, decreased consciousness, seizures, developmental delay, and ataxia. 1 2 3

Laboratory Tests: Elevated ammonia levels, low cerebrospinal fluid (CSF) glucose in the setting of normal blood glucose (hypoglycorrhachia). 1 2

Genetic Testing: Sequencing of SLC2A1 gene or SNP oligonucleotide microarray analysis for microdeletions. 3

Imaging: MRI may show more severe changes in cases with microdeletions compared to missense mutations. 3

Management

First-Line Treatments:

- Hyperammonemia: Discontinue nitrous oxide exposure and administer treatments to lower ammonia levels, such as lactulose and rifaximin. 1 - Glut-1 DS: Ketogenic diet or modified Atkins diet (MAD) as primary management for seizures and metabolic derangements. 2 3

Adjunctive Treatments: Antiepileptic drugs may be used if dietary therapies are insufficient or not tolerated, though many patients can be managed without them. 2

Special Populations

Pediatrics: Early onset of symptoms, particularly seizures between 4 weeks to 18 months of age, necessitates prompt diagnosis and dietary intervention. 4

Comorbidities: Patients with severe Glut-1 DS often have additional neurological impairments like developmental delay and motor deficits, requiring multidisciplinary care. 3 4

Key Recommendations

Identify and Remove Metabolic Triggers: Discontinue nitrous oxide exposure in cases of hyperammonemia due to its use. (Evidence: Strong 1)

Initiate Dietary Therapies Early: For Glut-1 DS, start a ketogenic diet or modified Atkins diet early to manage seizures and metabolic derangements effectively. (Evidence: Moderate 2 3)

Genetic Testing for Confirmation: Utilize SLC2A1 gene sequencing or SNP oligonucleotide microarray analysis to confirm Glut-1 DS diagnosis, especially in cases with negative initial sequencing. (Evidence: Moderate 3)

References

1 Vive MGD, Anguelova GV, Duim S, Hofstee HMA. Metabolic encephalopathy caused by nitrous oxide ('laughing gas') induced hyperammonaemia. BMJ case reports 2019. link 2 Woo SB, Lee KH, Kang HC, Yang H, De Vivo DC, Kim SK. First report of glucose transporter 1 deficiency syndrome in Korea with a novel splice site mutation. Gene 2012. link 3 Levy B, Wang D, Ullner PM, Engelstad K, Yang H, Nahum O et al.. Uncovering microdeletions in patients with severe Glut-1 deficiency syndrome using SNP oligonucleotide microarray analysis. Molecular genetics and metabolism 2010. link 4 Leary LD, Wang D, Nordli DR, Engelstad K, De Vivo DC. Seizure characterization and electroencephalographic features in Glut-1 deficiency syndrome. Epilepsia 2003. link 5 Pidoux AL, Armstrong J. The BiP protein and the endoplasmic reticulum of Schizosaccharomyces pombe: fate of the nuclear envelope during cell division. Journal of cell science 1993. link 6 Suzuki T, Mori K. A galactose-specific lectin from the hemolymph of the pearl oyster, Pinctada fucata martensii. Comparative biochemistry and physiology. B, Comparative biochemistry 1989. link90116-8)

Metabolic encephalopathy