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Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency is characterised by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels.
- Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: E72.1
- OMIM: 613752
- UMLS: C3151058
- MeSH: -
- GARD: -
- MedDRA: -
It has been described in three unrelated patients.
Two causative mutations have been identified in the gene encoding S-adenosylhomocysteine hydrolase (SAHH; AHCY), an enzyme involved in methionine metabolism.
Transmission appears to be autosomal recessive.
Management and treatment
A methionine-restricted diet, together with creatine supplements, may partly improve the delayed myelination and psychomotor development.