GM3 synthase deficiency

GM3 synthase deficiency is a rare condition that affects brain development and causes recurrent seizures (epilepsy). In the first few weeks of life, infants with this condition may be irritable and experience feeding difficulties and vomiting, which can lead to challenges in gaining weight and growing normally. Within the first year, seizures typically begin and may become more frequent and severe over time. These seizures can include generalized tonic-clonic (grand mal) seizures, which involve muscle rigidity, convulsions, and loss of consciousness, as well as prolonged episodes known as nonconvulsive status epilepticus. The seizures are often resistant to common antiseizure medications.

People with GM3 synthase deficiency often experience recurring seizures, irritability, feeding difficulties, vomiting, and poor growth early in life. Seizure activity can vary in type and may worsen over time.

GM3 synthase deficiency is caused by changes in the ST3GAL5 gene, which affects the production of an enzyme called GM3 synthase that is important for normal brain development. The exact genetic mechanisms and inheritance patterns require further clarification, but the mutation in this gene is known to be associated with the condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.