Intermediate maple syrup urine disease (IMSUD) is a rare inherited metabolic disorder caused by a deficiency of the enzyme branched-chain alpha-keto acid dehydrogenase (BCKD). It is a milder form of maple syrup urine disease (MSUD), which is caused by a complete deficiency of the same enzyme. People with IMSUD have a partial deficiency of the enzyme, which can lead to a buildup of certain amino acids in the body. Symptoms of IMSUD can include poor feeding, vomiting, lethargy, and seizures. Treatment typically involves a special diet and supplements to help manage the condition.

The symptoms of Intermediate maple syrup urine disease (MSUD) can vary from person to person, but generally include:

- Poor feeding
- Vomiting
- Lethargy
- Irritability
- Seizures
- Developmental delay
- Unusual body odors
- Abnormal movements
- Abnormal eye movements
- Abnormal breathing patterns
- High levels of certain amino acids in the blood and urine

Intermediate maple syrup urine disease (IMSUD) is caused by a genetic mutation in the BCKDHA, BCKDHB, or DBT genes. These genes are responsible for producing enzymes that are necessary for breaking down certain amino acids. When these enzymes are not produced, the amino acids accumulate in the body, leading to the symptoms of IMSUD.

The primary treatment for intermediate maple syrup urine disease is a strict diet that is low in branched-chain amino acids (BCAAs). This diet should be tailored to the individual patient and monitored closely by a dietitian. Other treatments may include vitamin and mineral supplements, carnitine supplementation, and enzyme replacement therapy. In some cases, a liver transplant may be necessary.

1. Autosomal recessive inheritance
2. Deficiency of the enzyme branched-chain alpha-keto acid dehydrogenase
3. Mutations in the BCKDHA, BCKDHB, and DBT genes
4. Exposure to certain environmental toxins
5. Low levels of thiamine (vitamin B1)
6. Low levels of carnitine
7. Low levels of selenium
8. Low levels of zinc
9. Low levels of magnesium
10. Low levels of copper
11. Low levels of iron
12. Low levels of vitamin B6
13. Low levels of vitamin B12
14. Low levels of folate
15. Low levels of choline
16. Low levels of omega-3 fatty acids
17. Low levels of carnitine pal

Yes, there is a cure for intermediate maple syrup urine disease. Treatment typically involves a combination of dietary management, medications, and supplements. Dietary management involves restricting the intake of certain amino acids, while medications and supplements are used to replace the missing enzymes and help the body break down and process the amino acids.