Lactic acidosis congenital infantile

Congenital Infantile Lactic Acidosis is a rare metabolic disorder characterized by an elevated level of lactic acid in the blood, which can lead to acidification of the body (acidosis). This condition is present from birth (congenital) and is most commonly identified in infancy. Lactic acidosis occurs when the body produces more lactic acid than it can effectively remove, leading to symptoms that can affect many parts of the body, particularly the nervous system and muscles.

Causes

Congenital Infantile Lactic Acidosis is primarily caused by genetic mutations that affect the body's ability to produce enzymes necessary for the mitochondria—the powerhouses of the cell—to generate energy efficiently. This inefficiency leads to the overproduction of lactic acid. The most common genetic mutations are found in genes responsible for the pyruvate dehydrogenase complex, which plays a critical role in energy production.

Symptoms

Symptoms of Congenital Infantile Lactic Acidosis can vary widely among affected individuals but often include:

• Muscle weakness
• Hypotonia (reduced muscle tone)
• Respiratory distress
• Feeding difficulties
• Developmental delay
• Seizures

In severe cases, the condition can lead to life-threatening complications.

Diagnosis

Diagnosis of Congenital Infantile Lactic Acidosis involves a combination of clinical evaluation, family history, and laboratory tests. Key diagnostic tests include:

• Blood tests to measure lactic acid levels
• Genetic testing to identify specific mutations
• Magnetic resonance imaging (MRI) of the brain to detect abnormalities
• Muscle biopsy to examine mitochondrial function

Treatment

There is no cure for Congenital Infantile Lactic Acidosis, and treatment focuses on managing symptoms and preventing complications. Treatment strategies may include:

• Dietary modifications to manage lactic acid levels
• Supplements such as vitamins and coenzymes that may help improve mitochondrial function
• Physical therapy to improve muscle strength and mobility
• Medications to control seizures

Prognosis

The prognosis for individuals with Congenital Infantile Lactic Acidosis varies depending on the severity of the condition and the effectiveness of management strategies. Early diagnosis and intervention can improve outcomes for some individuals.

See Also

• Metabolic disorder
• Mitochondrial disease
• Acidosis