Aminoacylase 1 deficiency

Summarized by Plex Health
Last Updated: 02 May 2022

Aminoacylase 1 deficiency is an acquired disorder that can cause neurological issues; the pattern and extent of symptoms and signs vary extensively amongst affected individuals. Some people with aminoacylase 1 deficiency have no health and wellness troubles associated to the condition. A key feature common to all people with aminoacylase 1 deficiency is high degrees of customized protein foundation, called N-acetylated amino acids, in the urine. The frequency of aminoacylase 1 deficiency is unidentified. Aminoacylase 1 deficiency is brought on by mutations in the ACY1 gene. Many proteins in the body have an acetyl group attached to one end. Aminoacylase 1 performs the final step in the breakdown of these proteins by removing the acetyl group from particular amino acids. Mutations in the ACY1 genetics lead to an aminoacylase 1 enzyme with little or no function. The excess N-acetylated amino acids are released from the body in urine. It is not understood just how a reduction of aminoacylase 1 function causes neurological troubles in people with aminoacylase 1 deficiency.

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