AMPD2 (adenosine monophosphate deaminase 2) is a key metabolic enzyme that catalyzes the deamination of AMP to IMP, playing a critical role in the purine nucleotide cycle and energy homeostasis 1. The gene is widely expressed in non-muscle tissues and encodes isoform L, the predominant AMP deaminase activity in adult human liver 2. AMPD2 is located on chromosome 1.3 and contains 19 exons with alternative transcription patterns that generate tissue-specific isoforms with variable N-terminal extensions 32. AMPD2 deficiency causes selective neurodegeneration, particularly in the hippocampal dentate gyrus, through disrupted purine metabolism and reduced GTP synthesis; IMPDH2 filament formation in resistant regions protects against neuronal vulnerability 4. AMPD2 dysfunction also impairs renal function, with deficiency causing proteinuria and podocyte dysfunction resembling minimal-change nephropathy 5. In hereditary fructose intolerance, AMPD2 activation drives metabolic dysregulation and liver disease, and its hepatic deletion improves metabolic consequences 6. Recent evidence suggests AMPD2 as a biomarker for acute myocardial infarction diagnosis through lactylation-related pathways 7. Mutations cause childhood neurodegenerative disorders including pontocerebellar hypoplasia 9 and spastic paraplegia 63, underscoring its essential role in neural energy metabolism.