[Early diagnosis of neurometabolic diseases by tandem mass spectrometry. Acylcarnitine profile from cord blood]

Rev Neurol. 2004 Jan;38(1):11-6.
[Article in Spanish]


Introduction: Tandem mass spectrometry (MS/MS) provides a multi-analyte technology for the detection of disorders characterised by the presence of abnormal concentrations of metabolites related to neurological deterioration. It has been recently recommended the use of this technique for early diagnosis of inherited metabolic diseases using cord blood.

Aims: To draw the attention to the inherited metabolic diseases detected by tandem mass spectrometry and to establish reference values for acylcarnitines in cord blood.

Patients and methods: One hundred and thirty cord blood specimens from full-term and normal birth weight children (78 males and 52 females) were analysed by MS/MS.

Results and conclusion: Reference values for acylcarnitines from cord blood by MS/MS as a tool for the diagnosis of some neurometabolic diseases are provided. No statistical significant difference between sexes was found. We reviewed the literature related to the diagnosis of inherited metabolic diseases, with emphasis in fatty acid mitochondrial beta-oxidation using MS/MS.

Publication types

  • English Abstract

MeSH terms

  • Carnitine / analogs & derivatives*
  • Carnitine / blood*
  • Female
  • Fetal Blood / chemistry*
  • Humans
  • Infant, Newborn
  • Male
  • Mass Spectrometry
  • Metabolic Diseases / blood*
  • Metabolic Diseases / complications
  • Metabolic Diseases / diagnosis*
  • Nervous System Diseases / blood*
  • Nervous System Diseases / complications
  • Nervous System Diseases / diagnosis*
  • Reference Values
  • Time Factors


  • acylcarnitine
  • Carnitine