Hyper-beta-alaninemia is a rare inherited metabolic disorder caused by a deficiency of the enzyme beta-alanine transaminase. This enzyme is responsible for breaking down the amino acid beta-alanine, which is found in proteins. When the enzyme is deficient, beta-alanine builds up in the body, leading to a variety of symptoms, including seizures, developmental delays, and movement disorders.

The symptoms of Hyper-beta-alaninemia include:

-Developmental delay
-Seizures
-Muscle weakness
-Lethargy
-Feeding difficulties
-Vomiting
-Poor weight gain
-Hypotonia
-Hyperactivity
-Behavioral problems
-Speech delay
-Hearing loss
-Vision problems
-Heart defects
-Kidney problems

Hyper-beta-alaninemia is caused by a genetic mutation in the gene that codes for the enzyme, beta-alanine transaminase. This mutation results in a deficiency of the enzyme, which is responsible for breaking down the amino acid beta-alanine. Without this enzyme, beta-alanine builds up in the body, leading to the symptoms of hyper-beta-alaninemia.

The primary treatment for hyper-beta-alaninemia is a low-protein diet, which helps to reduce the amount of beta-alanine in the body. Additionally, supplementation with carnitine, a compound that helps to break down beta-alanine, may be recommended. In some cases, medications such as valproic acid may be prescribed to help reduce the levels of beta-alanine in the body. In severe cases, a liver transplant may be necessary.

1. Genetic mutation: Hyper-beta-alaninemia is caused by a genetic mutation in the gene that codes for the enzyme, beta-alanine transaminase.

2. Family history: Individuals with a family history of Hyper-beta-alaninemia are at an increased risk of developing the condition.

3. Ethnicity: Individuals of certain ethnic backgrounds, such as Ashkenazi Jews, are more likely to develop Hyper-beta-alaninemia.

4. Age: Hyper-beta-alaninemia is more common in infants and young children.

Yes, there is a cure for Hyper-beta-alaninemia. It is called a Biotinidase Deficiency Treatment. This treatment involves taking a daily dose of biotin, which is a B-complex vitamin. Additionally, medications such as carnitine and riboflavin may be prescribed to help reduce the symptoms of Hyper-beta-alaninemia.