Background Infantile Tremor Syndrome (ITS) is a disorder of infancy, and characterized by developmental delay and/or regression, pallor, skin hyperpigmentation and hypopigmented hair. It is commonly seen in infants in whom exclusive breastfeeding is given inappropriately for longer durations than recommended. ITS is predominantly reported from the Indian subcontinent and in children from a lower socioeconomic background. It is a clinical diagnosis and vitamin B12 deficiency is the most commonly accepted etiology of this entity. Objectives The primary objectives of study were to compare the plasma and urine amino acid levels among children with ITS spectrum with those of healthy children. The secondary objectives were to compare the plasma and urine amino acid levels among children with ITS and Pre-ITS. Study design This cross-sectional, observational study was carried out at a tertiary care hospital in North India. Participants A total of 50 children aged < 36 months with ITS/Pre-ITS were enrolled. Children with Pre-ITS and ITS were compared with healthy age-matched study subjects. Results Thirty-nine (78%) cases and twelve (24%) healthy children had low serum vitamin B12 levels. Folate levels were normal in all the controls, while only one case had folate deficiency. There were significant differences (p < 0.05) in the values of 32 amino acids in plasma. Among 44 urinary amino acids, levels of 30 amino acids were significantly different in the cases compared with the controls (p < 0.05). Conclusions Several changes in amino acids in the children suffering from ITS were observed. These changes may be a reflection of the metabolic derangements in ITS.

中文翻译：

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婴儿震颤综合征患儿的血浆和尿氨基酸谱

背景婴儿震颤综合征（ITS）是一种婴儿疾病，其特征是发育迟缓和/或退化、苍白、皮肤色素沉着过度和头发色素减退。这种情况常见于婴儿不适当地进行纯母乳喂养的时间超过推荐的时间。ITS 主要来自印度次大陆和社会经济背景较低的儿童。这是一种临床诊断，维生素 B12 缺乏是该实体最普遍接受的病因。目的 研究的主要目的是比较 ITS 谱系儿童与健康儿童的血浆和尿液氨基酸水平。次要目标是比较 ITS 和 ITS 前儿童的血浆和尿液氨基酸水平。研究设计这个横截面，在印度北部的一家三级医院进行了观察性研究。参加者共50名儿童，年龄<< 注册了 36 个月的 ITS/Pre-ITS。将患有 Pre-ITS 和 ITS 的儿童与健康的年龄匹配的研究对象进行比较。结果 39 例 (78%) 例和 12 例 (24%) 健康儿童血清维生素 B12 水平较低。所有对照组的叶酸水平均正常，而只有 1 例患者缺乏叶酸。血浆中32个氨基酸的值存在显着差异(p＜0.05)。在 44 种尿氨基酸中，30 种氨基酸的水平在病例中与对照组相比有显着差异（p < 0.05）。结论 观察到ITS患儿氨基酸的几个变化。这些变化可能是 ITS 代谢紊乱的反映。