Malonyl-CoA decarboxylase

Malonyl-CoA decarboxylase (EC 4.1.1.9) is an enzyme that catalyzes the chemical reaction in which malonyl-CoA is converted to acetyl-CoA and carbon dioxide. This enzyme plays a crucial role in fatty acid metabolism, particularly in the process of fatty acid synthesis and degradation. Malonyl-CoA decarboxylase is encoded by the MLYCD gene in humans.

Function

Malonyl-CoA decarboxylase is involved in the metabolic pathway that converts malonyl-CoA to acetyl-CoA, a pivotal molecule in metabolism that participates in the citric acid cycle, fatty acid synthesis, and the production of ketone bodies. By regulating the levels of malonyl-CoA, this enzyme indirectly influences the rate of fatty acid synthesis and degradation, serving as a metabolic switch between these two critical processes.

Clinical Significance

Mutations in the MLYCD gene can lead to malonyl-CoA decarboxylase deficiency, a rare inborn error of metabolism characterized by various symptoms, including developmental delay, hypoglycemia, cardiomyopathy, and metabolic acidosis. Diagnosis is typically made through genetic testing and analysis of organic acids in urine. Management of the condition involves dietary restrictions and supportive care.

Genetic

The MLYCD gene is located on chromosome 16q24.3 and consists of 16 exons. Mutations in this gene affect the enzyme's activity and stability, leading to the accumulation of malonyl-CoA and related metabolic disturbances.

See also

• Fatty acid metabolism
• Acetyl-CoA
• Metabolic pathway