Plasma and Urinary Amino Acid Profile in Children with Infantile Tremor Syndrome

K Dileep Satya1, Savita Verma Attri1, Indar Kumar Sharawat2

  • 1Department of Pediatrics, Advanced Pediatrics Centre (APC), Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh 160012, India.

Insights

Infantile Tremor Syndrome (ITS) is linked to vitamin B12 deficiency and shows significant differences in plasma and urine amino acid levels in affected infants. These metabolic changes may underlie the condition

Area of Science:

  • Pediatric Neurology
  • Nutritional Biochemistry
  • Developmental Pediatrics

Background:

  • Infantile Tremor Syndrome (ITS) is a pediatric disorder characterized by developmental delay, pallor, and skin/hair pigmentation changes.
  • It is frequently observed in infants with prolonged exclusive breastfeeding and is associated with vitamin B12 deficiency.
  • ITS is predominantly reported in the Indian subcontinent among lower socioeconomic populations.

Purpose of the Study:

  • To compare plasma and urine amino acid levels in children with ITS spectrum versus healthy controls.
  • To analyze amino acid differences between children diagnosed with ITS and those in the Pre-ITS stage.

Main Methods:

  • A cross-sectional, observational study conducted at a tertiary care hospital in North India.
  • Enrolled 50 children under 36 months with ITS/Pre-ITS, comparing them with age-matched healthy controls.
  • Measured plasma and urine amino acid levels, alongside serum vitamin B12 and folate levels.

Main Results:

  • 78% of ITS cases and 24% of controls had low serum vitamin B12 levels; folate levels were mostly normal.
  • Significant differences (p<0.05) were found in 32 plasma amino acids between ITS cases and controls.
  • Levels of 30 out of 44 urinary amino acids also showed significant differences (p<0.05) in cases compared to controls.

Conclusions:

  • Observed alterations in amino acid profiles in children with ITS suggest underlying metabolic derangements.
  • These amino acid changes may be indicative of the pathological processes involved in Infantile Tremor Syndrome.
Abstract

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