Dried blood spot acylcarnitines from selective screening for detection of Carnitine-acylcarnitine Translocase (CACT) deficiency and Carnitine palmitoyl transferase 2 (CPT2) deficiency by electrospray tandem mass spectrometry.

Published: 21 February 2023| Version 2 | DOI: 10.17632/zzgfhbvzg4.2
Anasufiza Habib,


The dataset was generated from analysis of acylcarnitines in the 17,121 dried blood spots using tandem mass spectrometry operated with electrospray in positive ion mode. Precursor ion scan of m/z 85 was used for all acylcarnitines and quantification of each analyte was obtained using the signal intensity ratio of the compound to its internal standard. The acylcarnitines analyzed included C0, C2, C3, C3DC, C4, C5, C5:1, C5DC, C5OH, C6, C8, C10, C12, C14, C16, C18, C18:1, C16OH, C18OH and C18:1OH. The data was analyzed using Neolynx V4.0 software. The data analysis was obtained from measurement of acylcarnitines from symptomatic Malaysian patients less than fifty years old who exhibiting symptoms suggestive of inborn errors of metabolism but had normal acylcarnitine profile. These data on the acylcarnitines derived from the dried blood spot (DBS) and their respective calculated acylcarnitine ratio has been used in patients with clinically suspected long chain fatty acid oxidation disorders, Carnitine-acylcarnitine Translocase (CACT) deficiency and carnitine palmitoyl transferase 2 (CPT2) deficiency. In our patient population, the 99th percentile was used as the cut-offs to detect the disease. The individual acylcarnitines and the relevant acylcarnitine ratios and spectrums of normal and five positive patients with Carnitine-acylcarnitine Translocase (CACT) deficiency or carnitine palmitoyl transferase 2 (CPT2) deficiency generated from analysis by tandem mass spectrometry are provided as attached files.


Steps to reproduce

Our dataset was produced by using a simple statistical method for a non-normal distributed data which is commonly found in rare diseases. The individual acylcarnitines mean, median, 1st and 99th percentile in Table 1 was calculated using Microsoft excel. The cut-off values for acylcarnitines were determined using 17,121 samples. We use the 99th percentile as the cut-off value for all the analytes except for C0


Institute for Medical Research


Inborn Error of Metabolism


National Institutes of Health