Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency is a rare genetic disorder caused by mutations in the DGUOK gene. This gene is responsible for producing an enzyme called deoxyguanosine kinase, which is involved in the production of mitochondrial DNA. People with this disorder experience progressive muscle weakness, vision loss, hearing loss, and other neurological problems. In some cases, the disorder can be fatal.

The symptoms of Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency can vary from person to person, but may include:

- Muscle weakness
- Exercise intolerance
- Fatigue
- Muscle cramps
- Myalgia
- Ataxia
- Dysarthria
- Dysphagia
- Dyspnea
- Cardiomyopathy
- Hypertrophic cardiomyopathy
- Gastrointestinal symptoms
- Hearing loss
- Visual impairment
- Cognitive impairment
- Seizures
- Neuropathy
- Peripheral neuropathy
- Autonomic dysfunction
- Diabetes mellitus
- Hypogonadism
- Hypothyroidism
- Renal failure
- Liver failure
- Skin abnormalities
- Short stature

The cause of Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency is unknown. It is believed to be caused by a mutation in the DGUOK gene, which is responsible for the production of an enzyme involved in mitochondrial DNA replication and repair. This mutation leads to a decrease in the activity of the enzyme, resulting in the accumulation of multiple deletions in the mitochondrial DNA.

1. Dietary therapy: Dietary therapy is the mainstay of treatment for adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency. This includes a low-fat, low-carbohydrate diet with adequate protein and calorie intake.

2. Coenzyme Q10 supplementation: Coenzyme Q10 (CoQ10) is an antioxidant that helps to protect cells from damage and may help to improve mitochondrial function. CoQ10 supplementation may be beneficial in some cases of adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency.

3. Antioxidant therapy: Antioxidants such as vitamin E, vitamin C, and alpha-lipoic acid may help to reduce oxidative stress and improve mitochondrial function.

4. Exercise: Exercise can help to improve muscle strength and endurance, as well as reduce fatigue

1. Age: Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency typically presents in adulthood, usually between the ages of 30 and 50.

2. Gender: This condition appears to be more common in males than females.

3. Family history: A family history of the condition may increase the risk of developing it.

4. Ethnicity: This condition appears to be more common in individuals of Asian descent.

Unfortunately, there is no cure for Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency. However, there are medications that can help manage the symptoms of the condition. These include medications to help with muscle weakness, fatigue, and seizures. Additionally, dietary modifications, such as a low-carbohydrate diet, may help to reduce symptoms.