SNP Shot: Genomic Insights

Malonyl-CoA decarboxylase deficiency impairs the body's ability to process certain fats for energy. This condition usually manifests in early childhood. Developmental delays are almost universally observed in affected children. Other possible symptoms include reduced muscle strength (hypotonia), seizures, diarrhea, vomiting, and hypoglycemia (low blood sugar). Cardiomyopathy, a heart condition characterized by weakening and enlargement of the heart muscle, is also frequently associated with this deficiency.

Inheritance:

The inheritance pattern for this condition is autosomal recessive. This means that both copies of the responsible gene within each cell must be mutated for the condition to develop. Individuals with only one copy of the mutated gene (carriers) generally do not exhibit symptoms, but they can pass the gene on to their children. Both parents must be carriers to have a child with the condition.