S-adenosylhomocysteine hydrolase deficiency

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S-adenosylhomocysteine hydrolase deficiency

A rare multisystemic inherited metabolic diseases characterized clinically by a variable spectrum of severity primarily comprised of psychomotor delay myopathy and liver dysfunction. Most patients present in infancy but the onset can be already in utero or in adult age. Hypermethioninemia is frequent but often absent in infancy. Creatine kinase is elevated in most patients.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.

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S-adenosylhomocysteine hydrolase deficiency?

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.