Psychomotor retardation and myopathy due to S-adenosylhomocysteine hydrolase deficiency (Q89151): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed label, description and/or aliases in pt-br, en |
||
| description / pt-br | description / pt-br | ||
Esta síndrome é caracterizada por atraso psicomotor e miopatia grave (hipotonia, ausência de reflexos tendinosos e mielinização tardia) desde o nascimento, associada a hipermetioninemia e níveis séricos elevados de creatina quinase. Foi descrito em três pacientes não relacionados. A transmissão parece ser autossômica recessiva. Duas mutações causais foram identificadas no gene que codifica a S-adenosil-homocisteína hidrolase (SAHH; AHCY), uma enzima envolvida no metabolismo da metionina. Uma dieta restrita em metionina, junto com suplementos de creatina, pode melhorar parcialmente a mielinização retardada e o desenvolvimento psicomotor. | |||
| description / en | description / en | ||
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. | |||
Revision as of 15:42, 15 August 2026
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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_215404985 |
||
| English | Psychomotor retardation and myopathy 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. |
