3-phosphoglycerate dehydrogenase deficiency (Q85499): Difference between revisions
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A deficiência de 3-fosfoglicerato desidrogenase (deficiência de 3-PGDH) é uma forma autossômica recessiva da síndrome de deficiência de serina caracterizada clinicamente, nos poucos casos relatados, por microcefalia congênita, retardo psicomotor e convulsões intratáveis na forma infantil, por crises de ausência, atraso de desenvolvimento moderado e distúrbios comportamentais na forma juvenil. | |||
| description / en | description / en | ||
3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome characterised clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioural disorders in the juvenile form | |||
Revision as of 10:51, 15 August 2026
3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome characterised clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioural disorders in the juvenile form
| Language | Label | Description | Also known as |
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| default for all languages | ID_460538363 |
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| English | 3-phosphoglycerate dehydrogenase deficiency |
3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome characterised clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioural disorders in the juvenile form |
