Combined oxidative phosphorylation defect type 27 (COXPD27) 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 27 (COXPD27) 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 27 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 27 is largely supportive and symptomatic. This includes dietary modifications, such as a low-fat diet, and the use of supplements to help manage symptoms. Other treatments may include medications to help manage seizures, physical therapy to help with muscle weakness, and oxygen therapy to help with breathing difficulties. In some cases, a liver transplant may be recommended.

1. Mutations in the NDUFAF2 gene
2. Inheritance of the defective gene from a parent
3. Exposure to environmental toxins
4. Certain medical conditions, such as diabetes or obesity
5. Certain medications, such as anticonvulsants or antibiotics
6. Vitamin deficiencies, such as thiamine or riboflavin

At this time, there is no known cure or medications for Combined Oxidative Phosphorylation Defect Type 27. Treatment focuses on managing the symptoms and complications of the disorder. This may include physical therapy, occupational therapy, speech therapy, nutritional support, and medications to treat seizures or other symptoms.