Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase

MONDO:0013404

Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency is characterized by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels.

Also known as: hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency

1 clinical trial for this condition and its sub-types, 0 tagged with Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase itself.

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↑ Disorder of methionine catabolism (0)

Including sub-types (1) Tagged with Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase (0)

Trials to join now! 1

NIH launches major study to unlock secrets of rare bone diseases

Knowledge-focused Recruiting now

This study aims to collect information and bone samples from up to 1,000 people with bone or mineral disorders, such as tumor-induced osteomalacia or familial tumoral calcinosis. Participants receive standard medical evaluations and may provide bone tissue from surgery or a biops…

Sponsor: National Institute of Dental and Craniofacial Research (NIDCR) • Aim: Knowledge-focused

Last updated Sep 18, 2026 00:00 UTC

Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase

Where it sits in the disease tree

NIH launches major study to unlock secrets of rare bone diseases