Succinic acidemia lactic acidosis congenital

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Succinic Acidemia with Lactic Acidosis, Congenital
Specialty	Metabolic, Genetic
Causes	Genetic mutations
Diagnostic method	Genetic testing, Metabolic screening

Succinic Acidemia with Lactic Acidosis, Congenital is a rare metabolic disorder characterized by an accumulation of succinic acid and lactic acid in the body. This condition is congenital, meaning it is present from birth, and results from genetic mutations that affect the body's ability to metabolize certain substances properly.

Symptoms and Signs

The symptoms of Succinic Acidemia with Lactic Acidosis can vary widely among affected individuals. Common symptoms may include metabolic acidosis, muscle weakness, developmental delay, and failure to thrive. Due to the buildup of lactic acid, individuals may also experience episodes of lactic acidosis, which can be life-threatening if not managed properly.

Causes

Succinic Acidemia with Lactic Acidosis, Congenital is caused by genetic mutations that impair the function of enzymes involved in the Krebs cycle, also known as the citric acid cycle. This cycle is crucial for energy production in cells. The specific genes and mutations involved can vary among individuals.

Diagnosis

Diagnosis of this condition typically involves a combination of genetic testing and metabolic screening. Metabolic screening can detect abnormal levels of succinic acid and lactic acid in the blood, while genetic testing can identify the specific mutations responsible for the disorder.

Treatment

Treatment for Succinic Acidemia with Lactic Acidosis, Congenital focuses on managing symptoms and preventing metabolic crises. This may include dietary modifications, supplements to support metabolism, and medications to control acidosis. In some cases, specialized medical care may be required during episodes of lactic acidosis.

Prognosis

The prognosis for individuals with Succinic Acidemia with Lactic Acidosis, Congenital can vary widely depending on the severity of the condition and the effectiveness of management strategies. Early diagnosis and intervention can improve outcomes for some individuals.

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