About Guanidinoacetate Methyltransferase Deficiency

Cerebral Creatine Deficiency Syndrome 2, also known as guanidinoacetate methyltransferase deficiency, is related to cerebral creatine deficiency syndrome 1 and west syndrome, and has symptoms including ataxia and myoclonus. An important gene associated with Cerebral Creatine Deficiency Syndrome 2 is GAMT (Guanidinoacetate N-Methyltransferase), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. The drugs Silver sulfadiazine and Vitamins have been mentioned in the context of this disorder. Affiliated tissues include brain, skeletal muscle and retina, and related phenotypes are intellectual disability, severe and severe global developmental delay

Major Symptoms of Guanidinoacetate Methyltransferase Deficiency

The main symptoms of Guanidinoacetate methyltransferase (GAMT) deficiency include neurological problems, liver problems, immune system problems, and skin problems. This genetic defect causes reduced melanin production, causing skin, eye and nervous system problems. Patients may also develop anemia, susceptibility to infection, diabetes and other diseases. GAMT deficiency may also lead to liver damage and jaundice. The disease usually presents symptoms in early infancy, so early diagnosis and treatment is important.

Suitable Lifestyle for People with Guanidinoacetate Methyltransferase Deficiency

Suitable lifestyle options for people suffering from Guanidinoacetate methyltransferase deficiency include:

1. Maintaining a nutritionally balanced diet: This disease is related to DNA damage, so patients need to pay attention to supplementing adequate nutrients such as vitamin B, folic acid, calcium, iron, and zinc. It is recommended to increase the intake of foods such as vegetables, fruits, whole grains, legumes, nuts and seeds.

2. Avoid exposure to UV rays: People with Guanidinoacetate methyltransferase deficiency are susceptible to the effects of UV rays, which can cause skin damage and redness. Therefore, you should avoid prolonged exposure to the sun, or use sunshade measures such as umbrellas and hats.

3. Moderate exercise: Moderate aerobic exercise can improve the body's immunity and help maintain physical health. It is recommended that patients exercise 3-5 times a week, such as walking, jogging, swimming, etc.

4. Maintain mental health: Patients with Guanidinoacetate methyltransferase deficiency may need to face the discomfort and psychological stress caused by the disease for a long time. Therefore, it is very important to maintain a good mental state and ways to deal with stress. You can try meditation, deep breathing, yoga and other relaxing activities.

5. Follow the doctor's advice: Patients need to receive regular examinations and treatments from doctors to monitor disease progression and adjust treatment plans in a timely manner. It's also important to follow your doctor's dietary recommendations and medications. In summary, people with Guanidinoacetate methyltransferase deficiency need to pay attention to their physical health and lifestyle to maintain physical and mental health.

Other Diseases

Creatine Deficiency Syndrome due to AGAT DeficiencyIgA DeficiencyProtein C DeficiencyLRBA DeficiencyNGLY1 DeficiencyAldosterone DeficiencyProlidase DeficiencyCoenzyme Q10 DeficiencyProtein S DeficiencyTranscobalamin DeficiencyBiotinidase DeficiencyVitamin B12 DeficiencyHIBCH DeficiencyVitamin D Deficiency5-Oxoprolinase DeficiencyProopiomelanocortin DeficiencyVitamin A DeficiencyAntithrombin III DeficiencyVitamin K DeficiencyDNA Ligase IV Deficiency