Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is a rare genetic disorder characterized by the presence of multiple cartilage-capped bone lesions (metaphyseal chondromatosis) and an accumulation of the organic acid D-2-hydroxyglutaric acid in the urine (D-2-hydroxyglutaric aciduria). This disorder is caused by mutations in the D-2-hydroxyglutarate dehydrogenase gene, which is responsible for the production of the enzyme D-2-hydroxyglutarate dehydrogenase. This enzyme is involved in the metabolism of the amino acid leucine. Symptoms of this disorder can include skeletal abnormalities, developmental delay, intellectual disability, seizures, and movement disorders. Treatment is supportive and may include

The symptoms of Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria can vary from person to person, but may include:

-Delayed growth and development
-Joint Pain and stiffness
-Bone deformities
-Frequent fractures
-Muscle weakness
-Intellectual disability
-Seizures
-Behavioral problems
-Abnormal eye movements
-Hearing loss
-Abnormalities of the heart, lungs, and kidneys
-Abnormal accumulation of D-2-hydroxyglutaric acid in the urine

Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is a rare genetic disorder caused by mutations in the D2HGDH gene. This gene is responsible for producing an enzyme called D-2-hydroxyglutarate dehydrogenase, which is involved in the metabolism of the amino acid leucine. Mutations in this gene lead to a buildup of D-2-hydroxyglutaric acid in the body, which can cause a variety of symptoms including skeletal abnormalities, intellectual disability, and seizures.

1. Dietary management: A low-protein diet is recommended to reduce the amount of D-2-hydroxyglutaric acid in the body.

2. Medication: Medications such as acetazolamide, sodium benzoate, and biotin may be prescribed to reduce the levels of D-2-hydroxyglutaric acid in the body.

3. Physical therapy: Physical therapy can help to improve mobility and reduce pain associated with Metaphyseal chondromatosis.

4. Surgery: Surgery may be necessary to remove any affected bones or joints.

5. Genetic counseling: Genetic counseling can help to identify any genetic mutations that may be causing the condition.

1. Genetic mutation in the PEX7 gene
2. Family history of Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
3. Male gender
4. Exposure to certain environmental toxins
5. Low birth weight
6. Premature birth

At this time, there is no known cure for Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria. However, there are medications that can help manage the symptoms of the condition. These include nonsteroidal anti-inflammatory drugs (NSAIDs) to reduce pain and swelling, corticosteroids to reduce inflammation, and physical therapy to help maintain joint mobility. Additionally, dietary modifications may be recommended to reduce the amount of D-2-hydroxyglutaric acid in the body.