Table 1 The metabolites that are found to be relevant, as calculated by Boruta analysis, for distinguishing 22q11.2DS patients from controls, distinguishing 22q11.2DS patients with ASD from 22q11.2DS patients without ASD and distinguishing 22q11.2DS patients with an IQ score in the lowest range (IQ < 62) from 22q11.2DS patients with an IQ score in the highest range (IQ > 69).

From: Untargeted metabolic analysis in dried blood spots reveals metabolic signature in 22q11.2 deletion syndrome

Metabolites distinguishing 22q11.2DS patients from controls, according to Boruta analysis.

Metabolites distinguishing 22q11.2DS patients with ASD from 22q11.2DS patients without ASD, according to Boruta analysis.

Metabolites distinguishing 22q11.2DS patients with an IQ < 62 from 22q11.2DS patients with an IQ > 69, according to Boruta analysis.

(beta-1-O-[N-(2-hydroxymethyl-3-chlorophenyl)anthraniloyl]-d-glucupyranuronic acid)

Glutamyl-Tryptophan

11′-Carboxy-alpha-tocotrienol

3-Methoxybenzenepropanoic acid

12-Ketodeoxycholic acid

Glutamyl-Tyrosine

2-Hexaprenyl-3-methyl-6-methoxy-1,4 benzoquinone

DG(14:0/14:0/0:0)

1-Methylguanosine

Glycocholic acid

4-Methylcatechol

Diethylthiophosphate

2′-Deoxyinosine triphosphate

Histamine

Bisnorbiotin

Hydroquinone

3,5-Diiodothyronine

Hydroxyphenylacetylglycine

Cer(d18:0/16:0)

Hydroxyprolyl-Isoleucine

3b,12a-Dihydroxy-5a-cholanoic acid

Hydroxyprolyl-Isoleucine

dTDP

Imidazoleacetic acid riboside

3-Hydroxyhexadecanoylcarnitine

L-Proline

Eicosapentaenoyl Ethanolamide

Se-Methylselenocysteine

3-Methoxytyrosine

LysoPE(0:0/18:2(9Z,12Z))

Estrone sulfate

Tyramine

4-Hydroxy-5-(dihydroxyphenyl)-valeric acid-O-sulfate

LysoPE(0:0/20:2(11Z,14Z))

Galactaric acid

 

4-Hydroxybenzoic acid

N-(2-formyl-3-chlorophenyl)anthranilic acid

Hydroquinone

 

5,10-Methenyltetrahydrofolic acid

N(6)-(Octanoyl)lysine

Leukotriene B4 dimethylamide

 

5-Dodecenoic acid

N-Acetyl-L-phenylalanine

Leukotriene F4

 

5-Hydroxyindoleacetic acid

PA(20:4(5Z,8Z,11Z,14Z)e/2:0)

L-Kynurenine

 

5-Hydroxykynurenamine

Pantetheine

  

6-Phosphonoglucono-d-lactone

Phosphoribosyl pyrophosphate

  

7,8-Dihydropteroic acid

Pimelylcarnitine

  

Alpha-CEHC

Propinol adenylate

  

Ceramide (d18:1/12:0)

Putreanine

  

cis-2-Methylaconitate

Pyronaridine

  

Citric acid

Quinaprilat

  

Cortolone-3-glucuronide

Retinoyl b-glucuronide

  

DG(15:0/16:1(9Z)/0:0)

S-Adenosylmethionine

  

d-Glucuronic acid 1-phosphate

Sphingosine

  

Dihydrolipoamide

Sulfate

  

Glucosylsphingosine

Thymidine 3′,5′-cyclic monophosphate

  
  1. The names of the metabolites are shown in alphabetical order. The isobars of these metabolites can be found in the supplemental materials (Supplemental Tables 46).