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Table 4 Selected significant compounds identified by metabolic profiling of cell lines from the PHMDS (n = 11) and PHMDS Small Del/Mut (n = 9) cohort

From: DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome

Compound (PM plate)

Difference with controls

p value

PHMDS Small Del/Mut

 α-d-Glucose (PM-Trp)

Lower

0.001

PHMDS

 d-Fructose-6-Phosphate (PM-M1)

Lower

7.26E-05

 d-Glucose-1-Phosphate (PM-M1)

Lower

5.38E-04

 d-Glucosaminic acid (PM-M1)

Lower

2.45E−03

 d-Galactose (PM-M1)

Lower

2.03E−03

 β-Hydroxy-butyric acid (PM-M1)

Lower

3.53E−03

 γ-Amino-butyric acid (PM-M1)

Lower

7.51E−03

 α-d-Glucose (PM-M1)

Lower

0.014

 Propionic acid (PM-M1)

Higher

0.014

 d-Glucose-6-Phosphate (PM-M1)

Lower

0.017

 d-Mannose (PM-M1)

Lower

0.017

 N-acetyl-neuraminic acid (PM-M1)

Lower

0.019

 α-Keto-butyric acid (PM-M1)

Lower

0.019

 Pyruvic acid (PM-M1)

Lower

0.026

 Ala-Leu (PM-M2)

Lower

0.001

 Ala-Trp (PM-M2)

Lower

0.002

 Arg-Phe (PM-M2)

Lower

0.002

 His-Tyr (PM-M3)

Lower

0.007

 His-Trp (PM-M3)

Lower

0.007

 His-Val (PM-M3)

Lower

0.014

 l-Tryptophan (PM-Trp)

Lower

9.37E−03

 Trp-Gly (PM-Trp)

Lower

2.61E−03

 Trp-Lys (PM-Trp)

Lower

6.34E−03

 Triiodothyronine (PM-M6, well E3)

Lower

2.33E−05

 Epinephrine (PM-M6, well C3)

Lower

9.92E−05

 Progesterone (PM-M6, well G1)

Lower

1.51E−04

 Resistin (PM-M7, well B5)

Lower

0.0002

 hGH (Somatotropin) (PM-M7, well E3)

Lower

0.0002

 FGF-1 (PM-M7, well F1)

Lower

0.0002

 IL-1β (PM-M7, well G1)

Lower

0.0002

  1. For the selected relevant compounds, we considered trends based on unadjusted p values to highlight the clustering of metabolic findings suggestive of specific pathways