Alessandrì Maria G, Casarano Manuela, Pezzini Ilaria, Doccini Stefano, Nesti Claudia, Cioni Giovanni, Battini Roberta
Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Viale del Tirreno 331, 56128, Pisa, Italy,
JIMD Rep. 2014;16:81-7. doi: 10.1007/8904_2014_323. Epub 2014 Jul 6.
Aminoacylase 1 (ACY1) deficiency is a rare inborn error of metabolism presenting with heterogeneous neurological symptoms such as psychomotor delay, seizures, intellectual disability and it is characterized by increased urinary excretion of N-acetylated amino acids. We report on a new patient who presented ACY1 deficiency in association with isolated mild intellectual disability, but neither neurological symptoms nor autistic features. The child showed a compound heterozygous mutation (p.Glu233Asp) and a novel p.Ser192Arg fs*64, predicting an unstable transcript and resulting in very low protein levels.This new ACY1 deficient child was identified through regular screening for inborn error of metabolism adopted in our department in all cases of intellectual disability. This report supports a recommendation to perform metabolic investigations in patients with isolated mild intellectual disability.
氨基酰化酶1（ACY1）缺乏症是一种罕见的先天性代谢缺陷病，表现为精神运动发育迟缓、癫痫发作、智力残疾等多种神经系统症状，其特征是尿中N - 乙酰化氨基酸排泄增加。我们报告了一名新患者，该患者患有ACY1缺乏症，伴有孤立性轻度智力残疾，但无神经系统症状和自闭症特征。该患儿显示出复合杂合突变（p.Glu233Asp）和一个新的p.Ser192Arg fs*64突变，预测会产生不稳定的转录本并导致蛋白质水平极低。这名新的ACY1缺乏症患儿是通过我们科室对所有智力残疾病例进行的先天性代谢缺陷常规筛查而确诊的。本报告支持对孤立性轻度智力残疾患者进行代谢检查的建议。
