磷酸-核糖基-焦磷酸合成酶1(PRPS1)缺乏是PRPS1中功能变体丧失的继发原因。该酶产生磷酸-核糖基-焦磷酸(PRPP),用于嘌呤的合成,烟酰胺腺嘌呤二核苷酸(NAD),和NAD磷酸盐(NADP),在其他代谢途径中。艺术综合症,或严重的PRPS1缺乏症,是一种X连锁疾病,其特征是先天性感觉神经性听力损失,视神经萎缩,发育迟缓,共济失调,低张力,以及可导致进行性临床下降的复发性感染,通常导致5岁前死亡。在PRPP依赖性反应之外补充嘌呤和NAD途径是一种合乎逻辑的方法,并已在少数患者中报道。两个用S-腺苷甲硫氨酸(SAMe),一个用SAMe和烟酰胺核苷(NR)。我们介绍了第四位开始接受治疗的Arts综合征患者的临床过程,并回顾了先前报告的患者。所有患者症状稳定或改善,表明SAMe和NR可以作为艺术综合征的治疗选择,尽管需要进一步的研究。
Phospho-ribosyl-pyrophosphate synthetase 1 (
PRPS1) deficiency is secondary to loss of function variants in
PRPS1. This enzyme generates phospho-ribosyl-pyrophosphate (PRPP), which is utilized in the synthesis of purines, nicotinamide adenine dinucleotide (NAD), and NAD phosphate (NADP), among other metabolic pathways. Arts syndrome, or severe
PRPS1 deficiency, is an X-linked condition characterized by congenital sensorineural hearing loss, optic atrophy, developmental delays, ataxia, hypotonia, and recurrent infections that can cause progressive clinical decline, often resulting in death before 5 years of age. Supplementation of the purine and NAD pathways outside of PRPP-dependent reactions is a logical approach and has been reported in a handful of patients, two with S-adenosylmethionine (SAMe) and one with SAMe and nicotinamide riboside (NR). We present the clinical course of a fourth Arts syndrome patient who was started on therapy and review previously reported patients. All patients had stability or improvement of symptoms, suggesting that SAMe and NR can be a treatment option in Arts syndrome, though further studies are warranted.