Aminoacylase-1 Deficiency in a Lebanese Infant with a Novel Homozygous Variant

Résumé fourni par la source

Aminoacylase 1 (ACY1) deficiency is a rare autosomal recessive inborn error of metabolism characterized by impaired hydrolysis of N-acetylated amino acids and a broad clinical spectrum, including developmental delay, seizures, and hypotonia. Fewer than 20 cases have been reported worldwide. Here we present the first reported case of ACY1 deficiency in a Lebanese infant born to consanguineous parents, highlighting the diagnostic challenges and phenotypic variability associated with this disorder. Whole exome sequencing (WES) identified a novel unreported homozygous variant in the ACY1 gene, despite an otherwise normal biochemical screen. This case expands the clinical and genetic spectrum of ACY1 deficiency and underscores the importance of genetic testing in patients with unexplained neurodevelopmental delay.

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