SNP Shot: Genomic Insights

Ethylmalonic encephalopathy is a genetic condition passed down through families that primarily impacts the nervous system, along with other bodily functions. Individuals with this disorder exhibit neurological issues such as delays in reaching developmental milestones and subsequent loss of skills already learned (developmental regression). Other signs include decreased muscle strength (hypotonia), seizures, and unusual movements. The vascular system is also compromised, often resulting in a rash of small red spots (petechiae) due to skin bleeding and bluish discoloration of the hands and feet (acrocyanosis) caused by insufficient oxygen levels in the blood. Persistent diarrhea is another frequent characteristic of this condition.

Symptoms of ethylmalonic encephalopathy manifest either at birth or within the initial months of infancy. The nervous system complications typically intensify over time, and most individuals with this condition have a shortened lifespan, typically surviving only into early childhood.

Inheritance:

Ethylmalonic encephalopathy follows an autosomal recessive inheritance pattern. This means that for a person to be affected, they must inherit a mutated copy of the responsible gene from both parents. Each parent carries one copy of the mutated gene but usually doesn't exhibit any symptoms of the disorder.