Mutations or deficiencies in CPT I can lead to serious metabolic disorders. CPT I deficiency is a rare genetic disorder that impairs the oxidation of long-chain fatty acids, leading to symptoms like hypoketotic hypoglycemia, hepatomegaly, and muscle weakness. Histological analysis of tissues from affected individuals often shows lipid accumulation and compromised energy metabolism, highlighting the enzyme's pivotal role in maintaining metabolic homeostasis.
