3-hydroxy-3-methylglutaric aciduria (HMG)

Diagnosis and Testing

Who else in my family should be tested for 3-Hydroxy-3-methylglutaric aciduria (HMG)?

Most likely, if a family member has not shown symptoms of 3-Hydroxy-3-methylglutaric aciduria, then they do not have 3-Hydroxy-3-methylglutaric aciduria. Family members of an individual diagnosed with 3-Hydroxy-3-methylglutaric aciduria may a carrier. This means that they do not have the medical concerns associated with this condition, but have a chance of having children with 3-Hydroxy-3-methylglutaric aciduria. The risk to have a child with 3-Hydroxy-3-methylglutaric aciduria are dependent on if their partner(s) were also a carrier of the syndrome.

If the parents of an affected child have any siblings that are interested in having children, they may want to be tested to see if they are carriers. If they find that they are carriers, their partner may also want to be tested to determine their risk of having a child with 3-Hydroxy-3-methylglutaric aciduria.

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