Metab-L

Metab-L is a rare genetic disorder that affects the body's ability to break down certain proteins. It is characterized by a deficiency in the enzyme Beta-ketothiolase, which is involved in the metabolism of amino acids and lipids. This deficiency leads to a buildup of harmful substances in the body, causing a variety of symptoms.

Symptoms

The symptoms of Metab-L can vary widely, but they often include:

• Vomiting
• Dehydration
• Lethargy
• Metabolic acidosis
• Ketosis
• Developmental delay
• Seizures

Causes

Metab-L is caused by mutations in the ACAT1 gene. This gene provides instructions for making the enzyme beta-ketothiolase. When this gene is mutated, the enzyme's activity is reduced or eliminated, leading to the symptoms of Metab-L.

Diagnosis

Diagnosis of Metab-L is typically made through genetic testing, which can identify mutations in the ACAT1 gene. Other tests, such as urine tests and blood tests, may also be used to detect the buildup of harmful substances in the body.

Treatment

Treatment for Metab-L is primarily focused on managing symptoms and preventing complications. This may include dietary restrictions, medications to control seizures, and regular monitoring of metabolic and nutritional status.

Prognosis

The prognosis for individuals with Metab-L can vary widely, depending on the severity of symptoms and the individual's response to treatment. With early diagnosis and appropriate management, many individuals with Metab-L can lead healthy lives.

See also

• Inborn errors of metabolism
• Genetic disorders
• Metabolic disorders

References

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  Metab-L

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  Dr. med. Christian Renner