About HIBCH Deficiency

3-Hydroxyisobutyryl-Coa Hydrolase Deficiency, also known as valine metabolic defect, is related to dystonia and congenital hemidysplasia with ichthyosiform erythroderma and limb defects, and has symptoms including ataxia, myoclonus and seizures. An important gene associated with 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency is HIBCH (3-Hydroxyisobutyryl-CoA Hydrolase). Affiliated tissues include brain, and related phenotypes are vomiting and motor delay

Major Symptoms of HIBCH Deficiency

HIBCH deficiency, also known as hypocalcemia, is a condition characterized by low serum calcium levels. Some of the major symptoms of HIBCH deficiency include muscle weakness, numbness and tingling in the hands and feet, confusion, and a decreased ability to focus. It is important to note that HIBCH deficiency can also cause other health issues, such as osteoporosis. Treatment typically involves supplementation with calcium and vitamin D.

Suitable Lifestyle for People with HIBCH Deficiency

For patients with Hibiclor deficiency (membranous jaundice), the lifestyle should focus on the following points:

1. Reasonable diet: The diet should consist of small meals and frequent meals, foods rich in vitamins A, D, E, K and K2 Mainly, such as animal liver, fish, shrimp, crab, shellfish, tofu, eggs, vegetables, etc. At the same time, control the intake of foods high in fat, sugar, salt, and cholesterol, such as fatty meats, desserts, fried foods, etc.

2. Moderate exercise: According to the patient's physical condition and the doctor's advice, exercise appropriately, such as walking, jogging, swimming, etc. Avoid overexertion, strenuous exercise and physical labor during exercise.

3. Supplement nutrients: Under the guidance of a doctor, appropriate supplementation of vitamins A, D, E, K, K2 and other nutrients can help improve the patient's physical condition.

4. Pay attention to rest: Patients should maintain adequate rest and avoid overexertion to help the body recover.

5. Follow the doctor's advice: Follow the doctor's treatment recommendations, take medicine on time, and conduct regular check-ups to ensure the treatment effect.

6. Maintain a good attitude: Maintaining good communication with family and friends and maintaining a positive and optimistic attitude will help patients recover.

Other Diseases

Creatine Deficiency Syndrome due to AGAT Deficiency IgA Deficiency Vitamin B12 Deficiency LRBA Deficiency Protein S Deficiency NGLY1 Deficiency Vitamin D Deficiency Vitamin A Deficiency Tetrahydrobiopterin Deficiency Prolidase Deficiency

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