Neurological conditions associated with aminoacylase 1 deficiency (Q105263): Difference between revisions
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A deficiência de aminoacilase 1 é um erro inato do metabolismo marcado por um padrão característico de excreção urinária de N-acetil aminoácido e sintomas neurológicos variáveis. (atraso no desenvolvimento psicomotor e/ou convulsões). | |||
| description / en | description / en | ||
Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and variable neurologic symptoms. (delayed psychomotor development or seizures). | |||
Revision as of 11:21, 17 August 2026
Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and variable neurologic symptoms. (delayed psychomotor development or seizures).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_620694696 |
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| English | Neurological conditions associated with aminoacylase 1 deficiency |
Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and variable neurologic symptoms. (delayed psychomotor development or seizures). |
