A case of hyperlysinemia identified by urine newborn screening.
A case of hyperlysinemia identified by urine newborn screening.
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DOI：
10.1002/jmd2.12399
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发表时间：
2023-11
期刊：
影响因子：
--
通讯作者：
Houten SM
中科院分区：
文献类型：
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作者：
Yeganeh M;Auray-Blais C;Maranda B;Sabovic A;DeVita RJ;Lazarus MB;Houten SM
高赖氨酸血症是一种罕见的常染色体隐性缺陷的2-氨基己二酸半醛合成酶(AASS)，影响赖氨酸降解的初始步骤。这被认为是一种良性的生化异常，但有关病例的报道仍然很少。对其他病例的描述，特别是那些没有确定偏差的病例，可能有助于未来对新病例的咨询。这也可能有助于确定与药物抑制AASS相关的风险，AASS是一种潜在的治疗策略，正在对其他先天性赖氨酸降解错误进行调查。我们描述了在魁北克省新生儿尿液筛查项目中发现的一例高赖氨酸血症病例。此病例表现为胱氨酸尿症，但尿赖氨酸升高非常高。通过生化检测和AASS中双等位基因变异的鉴定，确诊为高赖氨酸血症。P.R146W和p.T371I变异体是新发现的，它们影响AASS赖氨酸-2-氧戊二酸结构域的折叠。这名11个月大的男婴目前在没有任何治疗干预的情况下表现良好。通过新生儿尿液筛查确诊该病例进一步证实，高赖氨酸血症是一种生化异常，临床后果有限，可能不需要任何干预。
Hyperlysinemia is a rare autosomal recessive deficiency of 2‐aminoadipic semialdehyde synthase (AASS) affecting the initial step in lysine degradation. It is thought to be a benign biochemical abnormality, but reports on cases remain scarce. The description of additional cases, in particular, those identified without ascertainment bias, may help counseling of new cases in the future. It may also help to establish the risks associated with pharmacological inhibition of AASS, a potential therapeutic strategy that is under investigation for other inborn errors of lysine degradation. We describe the identification of a hyperlysinemia case identified in the Provincial Neonatal Urine Screening Program in Sherbrooke, Quebec. This case presented with a profile of cystinuria but with a very high increase in urinary lysine. A diagnosis of hyperlysinemia was confirmed through biochemical testing and the identification of biallelic variants in AASS. The p.R146W and p.T371I variants are novel and affect the folding of the lysine‐2‐oxoglutarate domain of AASS. The 11‐month‐old boy is currently doing well without any therapeutic interventions. The identification of this case through newborn urine screening further establishes that hyperlysinemia is a biochemical abnormality with limited clinical consequences and may not require any intervention.