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psychomotorische retardatie door deficiëntie van S-adenosylhomocysteïnehydrolase (aandoening)
psychomotorische retardatie door deficiëntie van S-adenosylhomocysteïnehydrolase
psychomotore retardatie door S-adenosylhomocysteïnehydrolasedeficiëntie
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency
This syndrome 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. It has been described in three unrelated patients. Transmission appears to be autosomal recessive. Two causative mutations have been identified in the gene encoding S-adenosylhomocysteine hydrolase (SAHH; AHCY), an enzyme involved in methionine metabolism. A methionine-restricted diet, together with creatine supplements, may partly improve the delayed myelination and psychomotor development.
Id724039002
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetE72.1
RuleTRUE
AdviceALWAYS E72.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified