Disorders of gamma aminobutyric acid metabolism
ICD-10 E72.81 is a billable code used to indicate a diagnosis of disorders of gamma aminobutyric acid metabolism.
Disorders of gamma aminobutyric acid (GABA) metabolism encompass a range of metabolic conditions characterized by abnormalities in the synthesis, degradation, or transport of GABA, a crucial inhibitory neurotransmitter in the central nervous system. These disorders can lead to neurological symptoms, including seizures, developmental delays, and behavioral issues. GABA metabolism is primarily regulated by enzymes such as glutamate decarboxylase (GAD), which converts glutamate to GABA, and GABA transaminase, which is involved in GABA degradation. Deficiencies or dysfunctions in these enzymes can result in elevated levels of glutamate and reduced GABA, contributing to excitotoxicity and neurotoxicity. Genetic mutations affecting these metabolic pathways can lead to inherited forms of GABA metabolism disorders, often presenting in infancy or early childhood. Diagnosis typically involves biochemical assays, genetic testing, and neuroimaging studies to assess brain function and structure. Management may include dietary modifications, supplementation, and pharmacological interventions aimed at restoring GABA levels and mitigating symptoms.
Detailed neurological assessments, including seizure history and developmental milestones.
Patients presenting with seizures, developmental delays, or behavioral issues.
Ensure documentation reflects the neurological impact of GABA metabolism disorders.
Genetic testing results, family history, and metabolic screening outcomes.
Evaluation of patients with suspected inherited metabolic disorders.
Document specific genetic mutations and their implications for treatment.
Used when genetic testing is performed to confirm a diagnosis of GABA metabolism disorder.
Document the rationale for testing and results.
Neurology and genetics specialists should collaborate on documentation.
Common symptoms include seizures, developmental delays, behavioral issues, and in some cases, intellectual disability. The severity and type of symptoms can vary widely depending on the specific disorder and the age of onset.
