Fatal infantile cytochrome C oxidase deficiency (FICOD) is a rare, inherited metabolic disorder caused by a deficiency of the enzyme cytochrome C oxidase (COX). This enzyme is responsible for the production of energy in the body's cells. Without it, cells cannot produce enough energy to function properly, leading to a wide range of symptoms, including seizures, developmental delays, and muscle weakness. In some cases, FICOD can be fatal. Treatment typically involves dietary changes, supplements, and medications to help manage symptoms.

The symptoms of Fatal infantile cytochrome C oxidase deficiency include:

-Seizures
-Developmental delay
-Lethargy
-Feeding difficulties
-Poor muscle tone
-Growth retardation
-Respiratory distress
-Liver and kidney dysfunction
-Cardiomyopathy
-Hypotonia
-Hypoglycemia
-Hyperammonemia
-Lactic acidosis
-Neurodegeneration
-Cerebral atrophy
-Cataracts
-Hearing loss
-Visual impairment

Fatal infantile cytochrome C oxidase deficiency is caused by mutations in the SCO2 gene. This gene provides instructions for making a protein called cytochrome c oxidase (COX) which is essential for the production of energy in cells. Mutations in the SCO2 gene lead to a decrease in the amount of COX produced, resulting in a decrease in energy production and the development of the disorder.

Unfortunately, there is no known cure for Fatal infantile cytochrome C oxidase deficiency. Treatment focuses on managing symptoms and providing supportive care. This may include physical therapy, occupational therapy, speech therapy, nutritional support, and medications to help manage seizures. In some cases, a feeding tube may be necessary to ensure adequate nutrition. In addition, genetic counseling may be recommended to help families understand the condition and the risks associated with it.

1. Autosomal recessive inheritance
2. Mutations in the SCO2 gene
3. Mutations in the COX10 gene
4. Mutations in the COX15 gene
5. Mutations in the SURF1 gene
6. Mutations in the COX20 gene
7. Mutations in the COX6A1 gene
8. Mutations in the COX6B1 gene
9. Mutations in the COX7A2L gene
10. Mutations in the COX7B gene
11. Mutations in the COX8A gene
12. Mutations in the COX17 gene
13. Mutations in the COX4I2 gene
14. Mutations in the COX5A gene
15. Mutations in the COX6C

Unfortunately, there is no cure for Fatal infantile cytochrome C oxidase deficiency. However, there are medications that can help manage the symptoms of the disorder. These medications include anticonvulsants, muscle relaxants, and medications to help with breathing. Additionally, physical and occupational therapy can help improve muscle strength and coordination.