Malonic aciduria is a rare inherited metabolic disorder caused by a deficiency of the enzyme malonyl-CoA decarboxylase. This enzyme is responsible for breaking down malonic acid, a byproduct of the metabolism of certain amino acids. Without this enzyme, malonic acid builds up in the body, leading to a variety of symptoms including seizures, developmental delays, and kidney and liver problems.

The symptoms of Malonic aciduria can vary from person to person, but may include:

-Developmental delay
-Seizures
-Feeding difficulties
-Growth failure
-Vomiting
-Lethargy
-Weakness
-Muscle wasting
-Hypotonia
-Liver dysfunction
-Kidney dysfunction
-Hyperammonemia
-Metabolic acidosis
-Hypoglycemia
-Hyperuricemia
-Hyperammonemia
-Hyperlactatemia
-Hyperammonemic encephalopathy

Malonic aciduria is a rare inherited disorder caused by mutations in the MUT gene. This gene provides instructions for making an enzyme called methylmalonyl-CoA mutase, which is involved in breaking down certain proteins and fats. Mutations in the MUT gene lead to a deficiency of this enzyme, resulting in an accumulation of malonic acid in the body.

The primary treatment for malonic aciduria is dietary management. This includes avoiding foods that are high in malonate, such as certain fruits, vegetables, and grains. Additionally, a low-protein diet may be recommended to reduce the amount of malonate produced in the body. Supplementation with vitamins and minerals may also be recommended to help manage the condition. In some cases, medications such as carnitine may be prescribed to help the body metabolize malonate more efficiently.

1. Genetic mutations in the MUT gene
2. Consanguinity
3. Advanced paternal age
4. Exposure to certain environmental toxins
5. Deficiency of vitamin B12
6. Deficiency of biotin
7. Deficiency of thiamine
8. Deficiency of riboflavin
9. Deficiency of pantothenic acid
10. Deficiency of folate

At this time, there is no cure for malonic aciduria. Treatment focuses on managing the symptoms and preventing complications. This may include dietary modifications, medications to reduce acid levels in the body, and supplements to replace missing vitamins and minerals.