About Creatine Deficiency Syndrome due to AGAT Deficiency

Cerebral Creatine Deficiency Syndrome 3, also known as arginine:glycine amidinotransferase deficiency, is related to cerebral creatine deficiency syndrome 1 and type 2 diabetes mellitus. An important gene associated with Cerebral Creatine Deficiency Syndrome 3 is GATM (Glycine Amidinotransferase), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. Affiliated tissues include brain and whole blood, and related phenotypes are gowers sign and intellectual disability

Major Symptoms of Creatine Deficiency Syndrome due to AGAT Deficiency

Creatine deficiency syndrome due to AGAT deficiency can manifest in various symptoms. Some of the major symptoms include muscle weakness, fatigue, difficulty concentrating, shortness of breath, and insomnia. These symptoms can be severe and may affect daily life and mental health. It is important to seek medical attention if you experience any of these symptoms.

Suitable Lifestyle for People with Creatine Deficiency Syndrome due to AGAT Deficiency

For patients with Creatine deficiency syndrome due to AGAT deficiency, an appropriate lifestyle includes the following points:

1. Ensure adequate protein intake: Protein is an essential nutrient for muscle growth and repair. For patients with AGAT deficiency, Generally speaking, ensuring protein intake helps to supplement missing substances.

2. Control fat intake: Patients should reduce fat intake, especially saturated fatty acids and trans fatty acids, because these fatty acids may affect the metabolism and excretion of AGAT.

3. Maintain appropriate carbohydrate intake: Carbohydrates are the main source of energy required by the body, and patients need to ensure appropriate carbohydrate intake to maintain normal body functions.

4. Increase dietary fiber intake: Dietary fiber can help increase satiety, reduce discomfort symptoms in patients with AGAT deficiency, and help lower cholesterol levels.

5. Maintain adequate vitamin and mineral intake: Patients should eat more fresh fruits, vegetables, whole grains, fish and other foods to supplement the vitamins and minerals needed by the body.

6. Increase outdoor exercise: Patients should try to increase the amount of physical activity, such as walking, jogging, cycling and other outdoor exercises, to improve the body's AGAT level.

7. Maintain adequate sleep: Patients should ensure adequate sleep time to help the body metabolize and recover AGAT. It should be noted that patients should follow their doctor's advice when adjusting their lifestyle and pay close attention to changes in their symptoms. During the treatment process, patients should undergo regular examinations and evaluations so that treatment plans can be adjusted in a timely manner.

Other Diseases

Creatine Deficiency SyndromeX-Linked Creatine Transporter DeficiencyGLUT1 Deficiency SyndromeIgA DeficiencyLRBA DeficiencyProopiomelanocortin DeficiencyCoenzyme Q10 DeficiencyProlidase DeficiencyDNA Ligase IV DeficiencyNGLY1 DeficiencyProtein C DeficiencyAntithrombin III DeficiencyProtein S DeficiencyGATA2 DeficiencyAldosterone DeficiencyVitamin B12 DeficiencyVitamin A DeficiencyVitamin D Deficiency5-Oxoprolinase DeficiencyBiotinidase Deficiency