Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency

How might hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency be treated?

Because this disease affects many organs and may begin before birth, it may be difficult to treat. It is possible that blood abnormalities are present in all patients in utero.

Treatment may include:

  • A low methionine diet: This can decrease and sometimes even normalize the abnormalities in the blood exams. Patients have to be on a protein restricted diet and supplemented with a methionine-free amino acid mixture.
  • Supplementation with phosphatidylcholine and creatine: At this time there is no evidence that this treatment is effective.
  • Liver transplantation: Recently, liver transplantation was successfully done in one girl at the age of 40 months, but longer follow-up is needed to know the outcome of the liver transplantation.

The treatment outcome depends on the severity of the disease. It is not known whether even early intervention could help in severe cases. In others, it is possible that earlier initiation of treatment may improve the outcome. Regular careful evaluation of all body systems is indicated, mainly of the nervous system, psychomotor development, muscles, liver and blood (for coagulation). This includes imaging studies, especially regular liver imaging and blood exams.

Last updated on 05-01-20


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