About Homocystinuria without methylmalonic aciduria

What is Homocystinuria without methylmalonic aciduria?

Homocystinuria without methylmalonic aciduria is an inherited disorder caused by a deficiency of the enzyme cystathionine beta-synthase (CBS). This enzyme is responsible for the breakdown of the amino acid homocysteine. When CBS is deficient, homocysteine accumulates in the body, leading to a variety of health problems. Symptoms of homocystinuria without methylmalonic aciduria can include developmental delays, skeletal abnormalities, vision problems, and an increased risk of blood clots. Treatment typically involves a combination of dietary changes, vitamin supplements, and medications.

What are the symptoms of Homocystinuria without methylmalonic aciduria?

The symptoms of Homocystinuria without methylmalonic aciduria can include:

-Developmental delay
-Mental retardation
-Seizures
-Abnormal eye movements
-Skeletal abnormalities
-Abnormal blood clotting
-High levels of homocysteine in the blood
-Vision problems
-Heart problems
-Kidney problems
-Liver problems
-Pulmonary problems
-Skin problems

What are the causes of Homocystinuria without methylmalonic aciduria?

1. Deficiency of the enzyme cystathionine beta-synthase (CBS)
2. Deficiency of the enzyme methylenetetrahydrofolate reductase (MTHFR)
3. Deficiency of the enzyme 5,10-methylenetetrahydrofolate reductase (MTR)
4. Deficiency of the enzyme methionine synthase (MS)
5. Deficiency of the enzyme betaine-homocysteine methyltransferase (BHMT)
6. Deficiency of the enzyme cystathionine gamma-lyase (CGL)
7. Deficiency of the enzyme serine hydroxymethyltransferase (SHMT)
8. Deficiency of the enzyme cystathionine gamma-synthase (CGS

What are the treatments for Homocystinuria without methylmalonic aciduria?

1. Dietary treatment: A low-methionine diet is recommended to reduce the amount of homocysteine in the body. This diet should be supplemented with vitamins B6, B12, and folate.

2. Medication: Medications such as betaine, pyridoxine, and cysteine can be used to reduce homocysteine levels.

3. Enzyme replacement therapy: This involves replacing the missing enzyme with a synthetic version.

4. Gene therapy: This involves introducing a healthy gene into the body to replace the defective gene.

5. Surgery: Surgery may be necessary to correct any physical abnormalities caused by the disorder.

What are the risk factors for Homocystinuria without methylmalonic aciduria?

1. Genetic mutation in the CBS gene
2. Family history of homocystinuria
3. Low levels of vitamin B6
4. Low levels of vitamin B12
5. Low levels of folate
6. High levels of homocysteine in the blood
7. Abnormalities in the eyes, such as nearsightedness or astigmatism
8. Skeletal abnormalities, such as long, thin bones or scoliosis
9. Mental retardation
10. Blood clots in the veins or arteries

Is there a cure/medications for Homocystinuria without methylmalonic aciduria?

Yes, there are medications available to treat homocystinuria without methylmalonic aciduria. These medications include betaine, vitamins B6 and B12, and folic acid. Additionally, dietary changes may be recommended to reduce the amount of methionine in the diet.