Allen John, Power Bronwyn, Abedin Aida, Purcell Orla, Knerr Ina, Monavari Ahmad
National Centre for Inherited Metabolic Disorders Temple Street Children's University Hospital Dublin Ireland.
JIMD Rep. 2019 Mar 26;47(1):41-46. doi: 10.1002/jmd2.12029. eCollection 2019 May.
Classical homocystinuria is an autosomal recessive disorder caused by profound cystathionine β-synthase deficiency. Its biochemical hallmarks are high concentrations of plasma homocyst(e)ine and methionine. Clinical manifestations include lens dislocation, developmental delay, skeletal anomalies, or thromboembolism. Limited literature exists outlining the risk of encephalopathy associated with hypermethioninemia presenting in children with classical homocystinuria.
To assess the quality of metabolic control and plasma methionine concentrations in infancy in a cohort of 36 patients with classical homocystinuria in the Republic of Ireland.
Review of biochemical and clinical data including neuroradiological results that are available for the first year of life in our patients diagnosed on newborn screening was performed with appropriate consent and ethical approval.
Median total homocyst(e)ine and methionine plasma concentrations were 78 and 55 μmol/L, respectively. Methionine concentrations were significantly higher in neonates as opposed to older children. The highest methionine level identified was 1329 μmol/L in a child who presented clinically with encephalopathy. Elevated homocyst(e)ine and methionine levels are associated with significant morbidities. Therefore, prevention of complications requires prompt recognition and treatment. Chronic and acute complications may be encountered in patients with classical homocystinuria and plasma methionine concentrations pose an additional risk factor.
经典型同型胱氨酸尿症是一种常染色体隐性疾病，由胱硫醚β合酶严重缺乏引起。其生化特征是血浆同型半胱氨酸和蛋氨酸浓度升高。临床表现包括晶状体脱位、发育迟缓、骨骼异常或血栓栓塞。关于经典型同型胱氨酸尿症患儿高蛋氨酸血症相关脑病风险的文献有限。
评估爱尔兰共和国36例经典型同型胱氨酸尿症患者婴儿期的代谢控制质量和血浆蛋氨酸浓度。
在获得适当同意和伦理批准后，对经新生儿筛查确诊的患者出生后第一年的生化和临床数据（包括神经放射学结果）进行回顾。
同型半胱氨酸和蛋氨酸的血浆浓度中位数分别为78和55μmol/L。与大龄儿童相比，新生儿的蛋氨酸浓度显著更高。在一名临床上出现脑病的儿童中，检测到的最高蛋氨酸水平为1329μmol/L。同型半胱氨酸和蛋氨酸水平升高与严重疾病相关。因此，预防并发症需要及时识别和治疗。经典型同型胱氨酸尿症患者可能会出现慢性和急性并发症，血浆蛋氨酸浓度是一个额外的危险因素。
