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Table 1 Metabolomic perturbations in complex lipid pathways in a patient with RARS2-related mitochondrial disorder

From: Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report

BIOCHEMICAL

Z-score

CATEGORY

HMDB_ID

1-docosapentaenoyl-GPC (22:5n3)

3.6

Lysophospholipid

HMDB0010403

1-eicosapentaenoyl-GPC (20:5)

3.2

Lysophospholipid

HMDB0010397

1-stearoyl-GPI (18:0)

2.0

Lysophospholipid

HMDB0240261

1-dihomo-linolenoyl-GPC (20:3n3 or 6)

2.0

Lysophospholipid

HMDB0010394

1-docosahexaenoyl-GPC (22:6)

2.3

Lysophospholipid

HMDB0010404

1-stearoyl-2-oleoyl-GPC (18:0/18:1)

2.0

Phosphatidylcholine

HMDB0008038

1-oleoyl-2-dihomo-linolenoyl-GPC (18:1/20:3)

1.9

Phosphatidylcholine

HMDB0008113

1-stearoyl-2-docosapentaenoyl-GPC (18:0/22:5n3)

3.9

Phosphatidylcholine

HMDB0008056

1-palmitoyl-2-eicosapentaenoyl-GPC (16:0/20:5)

3.3

Phosphatidylcholine

HMDB0007984

1-stearoyl-2-dihomo-linolenoyl-GPC (18:0/20:3n3 or 6)

3.1

Phosphatidylcholine

HMDB0008047

phosphatidylcholine (18:0/20:5, 16:0/22:5n6)

2.8

Phosphatidylcholine

HMDB0008050, HMDB0007989

1-stearoyl-2-docosahexaenoyl-GPC (18:0/22:6)

2.2

Phosphatidylcholine

HMDB0008057

1-palmitoyl-2-docosahexaenoyl-GPC (16:0/22:6)

2.2

Phosphatidylcholine

HMDB0007991

1-stearoyl-2-docosahexaenoyl-GPE (18:0/22:6)

2.6

Phosphatidylethanolamine

HMDB0009012

1-palmitoyl-2-docosahexaenoyl-GPE (16:0/22:6)

2.2

Phosphatidylethanolamine

HMDB0008946

N-stearoyl-sphingosine (d18:1/18:0)

2.4

Ceramides

HMDB0004950

palmitoyl dihydrosphingomyelin (d18:0/16:0)

2.1

Dihydrosphingomyelins

HMDB0010168

sphingomyelin (d18:0/18:0, d19:0/17:0)

2.0

Dihydrosphingomyelins

HMDB0012087

stearoyl sphingomyelin (d18:1/18:0)

2.7

Sphingomyelins

HMDB0001348

palmitoyl sphingomyelin (d18:1/16:0)

2.4

Sphingomyelins

HMDB0010169

sphingomyelin (d18:1/24:1, d18:2/24:0)

2.2

Sphingomyelins

HMDB0012107

behenoyl sphingomyelin (d18:1/22:0)

2.2

Sphingomyelins

HMDB0012103

lignoceroyl sphingomyelin (d18:1/24:0)

2.1

Sphingomyelins

HMDB0011697