About Fatal infantile lactic acidosis with methylmalonic aciduria

What is Fatal infantile lactic acidosis with methylmalonic aciduria?

Fatal infantile lactic acidosis with methylmalonic aciduria (FILMA) is a rare, inherited metabolic disorder caused by a deficiency of the enzyme methylmalonyl-CoA mutase. This enzyme is responsible for breaking down certain proteins and fats in the body. Without it, the body is unable to properly process these proteins and fats, leading to a buildup of toxic substances in the blood and urine. Symptoms of FILMA include severe lactic acidosis, vomiting, seizures, developmental delays, and failure to thrive. Treatment typically involves a combination of dietary changes, medications, and supplements to help manage the symptoms.

What are the symptoms of Fatal infantile lactic acidosis with methylmalonic aciduria?

The symptoms of Fatal infantile lactic acidosis with methylmalonic aciduria include:

-Poor feeding
-Vomiting
-Lethargy
-Weakness
-Seizures
-Developmental delay
-Failure to thrive
-Hypoglycemia
-Hyperammonemia
-Acidosis
-Ketosis
-Hyperlactatemia
-Hyperuricemia
-Hyperammonemia
-Hyperlipidemia
-Hypercalcemia
-Hypocalcemia
-Hypophosphatemia
-Hypokalemia
-Hypomagnesemia
-Hyperbilirubinemia
-Elevated liver enzymes
-Elevated creatinine
-Elevated blood urea nitrogen
-Elevated urinary organic acids

What are the causes of Fatal infantile lactic acidosis with methylmalonic aciduria?

Fatal infantile lactic acidosis with methylmalonic aciduria is a rare, inherited metabolic disorder caused by a deficiency of the enzyme methylmalonyl-CoA mutase. This enzyme is responsible for breaking down certain proteins and fats in the body. Without it, these proteins and fats build up in the body and cause a variety of symptoms, including lactic acidosis, which is a dangerous buildup of lactic acid in the blood. Other causes of this disorder include mutations in the MUT gene, which is responsible for producing the methylmalonyl-CoA mutase enzyme, and deficiencies in vitamin B12, which is necessary for the enzyme to function properly.

What are the treatments for Fatal infantile lactic acidosis with methylmalonic aciduria?

Treatment for Fatal infantile lactic acidosis with methylmalonic aciduria typically involves dietary management, vitamin supplementation, and supportive care. Dietary management typically involves a low-protein diet supplemented with essential amino acids, as well as a low-fat diet. Vitamin supplementation typically includes B-complex vitamins, vitamin C, and carnitine. Supportive care may include respiratory support, intravenous fluids, and medications to reduce lactic acid levels. In some cases, a liver transplant may be necessary.

What are the risk factors for Fatal infantile lactic acidosis with methylmalonic aciduria?

1. Genetic mutations in the MUT, MMACHC, or MMAB genes.
2. Deficiency of the enzyme methylmalonyl-CoA mutase.
3. Deficiency of vitamin B12.
4. Low birth weight.
5. Premature birth.
6. Exposure to certain medications or toxins.
7. Metabolic disorders.
8. Severe infections.
9. Poor nutrition.
10. Inborn errors of metabolism.

Is there a cure/medications for Fatal infantile lactic acidosis with methylmalonic aciduria?

Yes, there is a cure for Fatal infantile lactic acidosis with methylmalonic aciduria. Treatment typically involves a combination of dietary modifications, medications, and supplements. Dietary modifications may include a low-protein diet, avoidance of certain foods, and supplementation with certain vitamins and minerals. Medications may include carnitine, biotin, and thiamine. Supplements may include omega-3 fatty acids, probiotics, and antioxidants.