About Pyruvate Dehydrogenase Deficiency

Pyruvate Dehydrogenase E1-Beta Deficiency, also known as pdhbd, is related to pyruvate dehydrogenase e1-alpha deficiency and oxoglutarate dehydrogenase deficiency. An important gene associated with Pyruvate Dehydrogenase E1-Beta Deficiency is PDHB (Pyruvate Dehydrogenase E1 Subunit Beta). The drugs Strawberry and Pyruvate have been mentioned in the context of this disorder. Affiliated tissues include eye, skeletal muscle and brain, and related phenotypes are agenesis of corpus callosum and abnormal facial shape

Major Symptoms of Pyruvate Dehydrogenase Deficiency

Pyruvate dehydrogenase deficiency (PDD) is an inherited metabolic disease whose main symptoms include:

1. Fatigue: Patients often feel tired and weak, even after light activity.

2. Loss of appetite: People with PDD may lose interest in food, leading to weight loss.

3. Vomiting: Patients may vomit, especially after eating or when feeling nauseous.

4. Diarrhea: People with PDD may experience diarrhea, usually due to acid reflux.

5. Constipation: Patients may experience constipation, which may be due to acid reflux or medication side effects.

6. Acid reflux: People with PDD may experience acid reflux, which can lead to esophageal inflammation, esophageal ulcers, or other stomach problems.

7. Oral ulcers: Patients may develop oral ulcers, especially in the mouth, throat, or lips.

8. Skin problems: People with PDD may develop skin problems such as eczema, psoriasis, or urticaria.

9. Photoallergy: Some patients may be allergic to sunlight or ultraviolet rays, causing skin problems.

10. Nervous system problems: People with PDD may develop neurological problems such as difficulty concentrating, ADHD, anxiety, or depression. It should be noted that these symptoms may not occur in all patients with PDD, and the specific situation needs to be evaluated based on the patient's genotype and condition. If you have symptoms related to PDD, it is recommended to seek medical treatment promptly and receive professional diagnosis and treatment.

Suitable Lifestyle for People with Pyruvate Dehydrogenase Deficiency

For patients with Pyruvate dehydrogenase deficiency (PDD), an appropriate lifestyle includes:

1. Diet adjustment: avoid excessive protein intake, increase carbohydrate intake, and maintain a balanced diet.

2. Moderate exercise: According to the patient's own physical condition and the doctor's advice, exercise appropriately, such as walking, jogging, etc.

3. Stay in a good mood: Maintain good communication with family and friends to avoid excessive anxiety and depression.

4. Follow the doctor's instructions: Under the guidance of the doctor, take the medicine according to the doctor's instructions and review regularly.

5. Avoid infection: Pay attention to personal hygiene, maintain good living habits, and avoid complications such as infection. It should be noted that patients should consult their doctor before making any lifestyle adjustments to determine a treatment plan that is suitable for the patient.

Other Diseases

Pyruvate Decarboxylase DeficiencyPyruvate Kinase DeficiencyPyruvate Carboxylase Deficiency Disease3-Hydroxyacyl-CoA Dehydrogenase DeficiencyPhosphoglycerate Dehydrogenase DeficiencyIsobutyryl-CoA Dehydrogenase Deficiency17-Beta-Hydroxysteroid Dehydrogenase X DeficiencyFatty Aldehyde Dehydrogenase DeficiencySuccinic Semialdehyde Dehydrogenase DeficiencyVery Long-Chain Acyl-CoA Dehydrogenase DeficiencyShort-Chain Acyl-CoA Dehydrogenase DeficiencyMedium-Chain Acyl-CoA Dehydrogenase DeficiencyLong-Chain 3-Hydroxyacyl-Coenzyme A Dehydrogenase DeficiencyCreatine Deficiency Syndrome due to AGAT DeficiencyIgA DeficiencyVitamin A DeficiencyProtein C DeficiencyVitamin B12 DeficiencyProlidase DeficiencyAntithrombin III Deficiency