Combined oxidative phosphorylation defect type 15 (COXPD15) is a rare genetic disorder caused by mutations in the SURF1 gene. It is characterized by a deficiency in the production of energy in the cells of the body, leading to a wide range of symptoms including muscle weakness, seizures, and developmental delays. It is inherited in an autosomal recessive pattern, meaning that both copies of the gene must be mutated for a person to be affected by the disorder.

The symptoms of Combined oxidative phosphorylation defect type 15 (COXPD15) vary from person to person, but may include:

-Developmental delay
-Seizures
-Growth retardation
-Muscle weakness
-Feeding difficulties
-Liver dysfunction
-Cardiac arrhythmias
-Respiratory problems
-Hypoglycemia
-Hypotonia
-Hearing loss
-Visual impairment
-Cognitive impairment
-Behavioral problems

Combined oxidative phosphorylation defect type 15 is caused by mutations in the SURF1 gene. This gene provides instructions for making a protein that is involved in the production of energy in cells. Mutations in this gene disrupt the production of energy, leading to the signs and symptoms of this disorder.

Treatment for Combined oxidative phosphorylation defect type 15 is largely supportive and symptomatic. This includes dietary modifications, such as a low-fat diet, and the use of supplements to replace missing nutrients. Medications may be prescribed to help manage symptoms, such as anticonvulsants for seizures and medications to help with muscle weakness. Physical and occupational therapy may also be recommended to help improve strength and coordination. In some cases, a liver transplant may be recommended.

1. Mutations in the SURF1 gene
2. Inheritance in an autosomal recessive pattern
3. A family history of the disorder
4. Exposure to certain environmental toxins
5. Low levels of certain enzymes in the body
6. Abnormalities in the mitochondria, the energy-producing structures in cells

At this time, there is no known cure or medications for Combined Oxidative Phosphorylation Defect Type 15 (COXPD15). Treatment is focused on managing the symptoms of the condition, which can include providing nutritional support, physical therapy, and respiratory support.