About 3-hydroxy-3-methylglutaric Aciduria

3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency, also known as hydroxymethylglutaric aciduria, is related to 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency and lipase deficiency, combined, and has symptoms including angina pectoris An important gene associated with 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency is HMGCL (3-Hydroxy-3-Methylglutaryl-CoA Lyase). Affiliated tissues include liver, cortex and brain, and related phenotypes are hyperammonemia and metabolic acidosis

Major Symptoms of 3-hydroxy-3-methylglutaric Aciduria

3-hydroxy-3-methylglutaric aciduria (3-HMGU) is a rare metabolic disease. The main symptoms include:

1. General pain: 3-HMGU patients often feel muscle, joint and joint pain.

2. Skin symptoms: Red spots, itching and eczema may occur on the skin.

3. Oral problems: 3-HMGU can cause oral inflammation, such as oral ulcers, gingivitis and loose teeth.

4. Mental retardation: 3-HMGU patients often experience cognitive impairment, learning difficulties, and inattention.

5. Kidney problems: Kidney disease is a common complication of 3-HMGU and may lead to renal insufficiency and kidney failure.

6. Digestive system problems: 3-HMGU can affect the digestive system, causing nausea, vomiting and diarrhea.

7. Blood problems: 3-HMGU can cause anemia, leukopenia and thrombocytopenia.

8. Nervous system problems: 3-HMGU can affect the nervous system, causing headaches, dizziness and epilepsy. 3-HMGU is a serious metabolic disease that can cause serious health problems. If you have relevant symptoms, please seek medical treatment promptly and receive professional treatment.

Suitable Lifestyle for People with 3-hydroxy-3-methylglutaric Aciduria

3-hydroxy-3-methylglutaric aciduria (3-MGU) is an inherited metabolic disorder that often results in liver damage and kidney disease. Therefore, patients with 3-MGU need to pay special attention to diet and lifestyle to ensure good health. In terms of diet, patients should follow the doctor's recommendations for personalized dietary adjustments. It is generally recommended to limit the intake of foods high in protein, fat, and sugar while increasing the intake of vegetables, fruits, whole grains, and low-fat protein foods. Additionally, patients may need to avoid stimulating substances such as alcohol, caffeine, and certain drugs, as these substances may worsen the symptoms of 3-MGU. In terms of lifestyle, patients need to follow their doctor's recommendations for treatment and actively participate in the treatment plan. Treatment may include medications, dietary modifications, liver transplantation, and more. In addition, patients also need regular follow-up and examinations to ensure that the disease is treated in a timely manner. In conclusion, dietary and lifestyle modifications are very important for patients with 3-MGU. Patients should follow their doctor's recommendations and actively participate in a treatment plan to improve disease symptoms and delay disease progression.

Other Diseases

3-hydroxy-3-methylglutaryl-CoA Synthase DeficiencyD-2-Hydroxyglutaric Aciduria3-methylglutaconic AciduriaOrotic AciduriaL-2-Hydroxyglutaric AciduriaGlutaric Aciduria Type 3Glutaric Aciduria Type 1Glutaric Aciduria Type 23-methylglutaconic Aciduria Type IV3-methylglutaconic Aciduria Type ICblC Type Methylmalonic Aciduria and Homocystinuria3-hydroxyacyl-CoA Dehydrogenase Deficiency3-M Syndrome3-methylcrotonyl-CoA Carboxylase Deficiency3C Syndrome5-oxoprolinase Deficiency6-pyruvoyl-tetrahydropterin Synthase DeficiencyAarskog-Scott SyndromeAbetalipoproteinemiaAbsence Epilepsy