hajameelsusega

Hajameelsusega is a rare and complex genetic disorder characterized by the absence of the enzyme succinyl-CoA synthetase, which is crucial for the metabolism of succinate, a key intermediate in the Krebs cycle. This deficiency leads to an accumulation of succinate and its derivatives in various tissues, particularly in the brain, resulting in a range of neurological symptoms.

The primary symptoms of Hajameelsusega include developmental delay, intellectual disability, seizures, and movement disorders. Patients may also experience metabolic acidosis, which is a condition characterized by an excess of acid in the body. The disorder is typically diagnosed in infancy or early childhood through genetic testing, which reveals a mutation in the SCSL gene.

There is currently no cure for Hajameelsusega, and treatment focuses on managing symptoms and preventing complications. This may include dietary modifications to reduce succinate levels, anticonvulsant medications to control seizures, and physical therapy to address movement disorders. Research into potential therapies, such as enzyme replacement or gene therapy, is ongoing but has not yet yielded significant breakthroughs.

Hajameelsusega is an autosomal recessive disorder, meaning that both copies of the SCSL gene must be mutated for the condition to occur. This typically happens when both parents carry a single copy of the mutated gene. The prevalence of Hajameelsusega is estimated to be less than one in a million, making it one of the rarest genetic disorders.