Department of Metabolic Diseases, Endocrinology and Diabetology, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S211-4. doi: 10.1007/s10545-010-9089-3. Epub 2010 May 18.
Aminoacylase 1 (ACY1) deficiency is a recently described inborn error of metabolism. Most of the patients reported so far have presented with rather heterogeneous neurologic symptoms. At this moment, it is not clear whether ACY1 deficiency represents a true metabolic disease with a causal relationship between the enzyme defect and the clinical phenotype or merely a biochemical abnormality. Here we present a patient identified in the course of selective screening for inborn errors of metabolism (IEM). The patient was diagnosed with autistic syndrome and admitted to the Children's Memorial Health Institute (CMHI) for metabolic evaluation. Organic acid analysis using gas chromatography-mass spectrometry (GC-MS) revealed increased urinary excretion of several N-acetylated amino acids, including the derivatives of methionine, glutamic acid, alanine, glycine, leucine, isoleucine, and valine. In Epstein-Barr virus (EBV)-transformed lymphoblasts, ACY1 activity was deficient. The mutation analysis showed a homozygous c.1057C>T transition, predicting a p.Arg353Cys substitution. Both parents were heterozygous for the mutation and had normal results in the organic acid analysis using GC-MS. This article reports the findings of an ACY1-deficient patient presenting with autistic features.
氨基己酸酶 1 (ACY1) 缺乏症是一种最近描述的先天性代谢缺陷。迄今为止报道的大多数患者均表现出相当异质的神经症状。目前尚不清楚 ACY1 缺乏症是否代表一种真正的代谢疾病，其酶缺陷与临床表型之间存在因果关系，还是仅仅是一种生化异常。在此，我们报告了在选择性筛选先天性代谢缺陷（IEM）过程中发现的患者。该患者被诊断为自闭症，并因代谢评估而入住儿童纪念卫生研究所（CMHI）。使用气相色谱-质谱法（GC-MS）进行的有机酸分析显示，几种 N-乙酰化氨基酸的尿排泄增加，包括蛋氨酸、谷氨酸、丙氨酸、甘氨酸、亮氨酸、异亮氨酸和缬氨酸的衍生物。在 Epstein-Barr 病毒（EBV）转化的淋巴母细胞中，ACY1 活性缺乏。突变分析显示纯合 c.1057C>T 转换，预测 p.Arg353Cys 取代。两位父母均为该突变的杂合子，GC-MS 有机酸分析结果正常。本文报告了一名表现出自闭症特征的 ACY1 缺乏症患者的发现。
