About Orotic Aciduria

Orotic Aciduria, also known as hereditary orotic aciduria, is related to developmental and epileptic encephalopathy 50 and lysinuric protein intolerance. An important gene associated with Orotic Aciduria is UMPS (Uridine Monophosphate Synthetase), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. Affiliated tissues include liver, bone marrow and kidney, and related phenotypes are global developmental delay and aminoaciduria

Major Symptoms of Orotic Aciduria

Orotic aciduria is a rare metabolic disease whose main symptoms include:

1. Severe vomiting: Patients often experience persistent vomiting, leading to dehydration and malnutrition.

2. Obesity: The patient is unable to eat normally, resulting in continued weight gain.

3. Constipation: Due to long-term vomiting, the intestines lose water and fiber, leading to constipation.

4. Diarrhea: Patients often experience diarrhea, resulting in loss of water and electrolytes.

5. Thirst: Patients are thirsty due to long-term vomiting, but because vomitus often contains a large amount of liquid, it is difficult for patients to eat.

6. Loss of taste and smell: Loss of water and electrolytes in the intestine due to vomiting results in patient's loss of taste and smell.

7. Cyanosis of the skin and eyes: Because the patient cannot eat normally, resulting in hypoxia, the skin and eyes become cyanotic.

8. Hematuria: Hematuria is caused by abnormal renal function in the patient.

9. Hypertension: Due to the patient's high blood pressure, dizziness and heart palpitations occur.

10. Abnormal liver function: Abnormal liver function causes pain and jaundice in the liver area. It should be noted that the above symptoms are only the main symptoms of Orotic aciduria, and specific symptoms may vary depending on individual patients. If you have the above symptoms, it is recommended to seek medical treatment as soon as possible for more professional diagnosis and treatment.

Suitable Lifestyle for People with Orotic Aciduria

A specific lifestyle approach is recommended for patients with Orotic aciduria. This lifestyle can help patients improve their condition and improve their quality of life. First of all, patients should follow the doctor's advice, take medication on time, and strictly adhere to the dosage. During the medication period, patients should avoid eating irritating foods, such as chili peppers, greasy foods, etc. Secondly, patients should maintain good work and rest habits, ensure adequate sleep, and avoid staying up late. In addition, patients should exercise appropriately to promote blood circulation and enhance body immunity. In addition, patients should avoid overexertion, avoid mental stress, and maintain a good attitude. During the remission period, patients can appropriately engage in some relaxing activities, such as walking, yoga, etc. , to maintain physical and mental health. Finally, patients should review regularly and report changes in their condition to the doctor in a timely manner so that the doctor can make timely adjustments to the condition.

Other Diseases

D-2-Hydroxyglutaric Aciduria3-Methylglutaconic AciduriaL-2-Hydroxyglutaric AciduriaGlutaric Aciduria Type 3Glutaric Aciduria Type 1Glutaric Aciduria Type 23-Hydroxy-3-Methylglutaric Aciduria3-Methylglutaconic Aciduria Type IV3-Methylglutaconic Aciduria Type ICblC Type Methylmalonic Aciduria and HomocystinuriaOrthostatic IntoleranceOsmotic Demyelination SyndromeOsteitisOsteoarthritisOsteochondromaOsteochondrosisOsteogenesis ImperfectaOsteogenesis Imperfecta Type IIOsteogenesis Imperfecta Type IIIOsteogenesis Imperfecta Type IV