Table 1.
Overview of recent proteomics analyses of rare genetic metabolic disorders.
| Disease | Disease Type | Altered Protein or Gene | Sample Type | Technique | Reference |
|---|---|---|---|---|---|
| Methyl malonic aciduria (MMA) | Methylmalonicacidemia | Methylmalonyl-CoA mutase (MUT) enzyme | HEK 293 cells mutated using CRISPR/Cas9 technique | Label-free LC-MS/MS | [60] |
| Fabry disease [61,62,63] | Lysosomal storage disease | α-galactosidase A | Human urine samples | Label-free LC-MS/MS (discovery) SRM (validation) |
[64] |
| Human urine samples | Label-free LC-MS/MS (discovery) SRM (validation) |
[65] | |||
| Human plasma samples | iTRAQ labelling (discovery) SRM (validation) |
[66] | |||
| Human urine samples | MRM | [67] | |||
| Gaucher disease | Lysosomal storage disease | Glucocerebrosidase | Human blood | iTRAQ labelling | [68] |
| Mucopolysaccharidosis MPS I |
Lysosomal storage disease | α-L-iduronidase | Mouse brain | Label-free LC-MS/MS | [69] |
| Human urine samples | Label-free LC-MS/MS (discovery) SRM (validation) |
[70] | |||
| Dried blood spots (DBS) | OLINK Proseek Multiplex Inflammation | [71] | |||
| Mucopolysaccharidosis MPS II | Lysosomal storage disease | Iduronatesulfatase | Human urine samples | Label-free LC-MS/MS (discovery) SRM (validation) |
[70] |
| Dried blood spots (DBS) and buccal swabs | Immunocapture and LC-MS/MS (Immuno-SRM) |
[72] | |||
| Human urine samples | Label-free LC-MS/MS (discovery) SRM (validation) |
[70] | |||
| Mucopolysaccharidosis MPS IIIB | Lysosomal storage disease | α-N-Acetylglucosaminidase | Mouse brain | LC-MS/MS | [73] |
| Mucopolysaccharidosis MPIV A | Lysosomal storage disease | N-acetylgalactosamine-6-sulfate sulfatase (GALN) | Human urine samples | Label-free LC-MS/MS (discovery) SRM (validation) |
[70] |
| Primary fibroblast culture | Label-free LC-MS/MS SWATH-MS |
[74] | |||
| Human leukocytes | Label-free LC-MS/MS SWATH-MS |
[75] | |||
| Human plasma | Label-free LC-MS/MS SWATH-MS |
[76] | |||
| Adrenoleukodystrophy (X-ALD) | Peroxisomal disorder | Long-chain fatty acid accumulation in plasma and tissues | CSF samples | iTRAQ labelling | [77] |
| Serum samples | Multi-omic approach | [78] | |||
| CSF samples | OLINK Proximity Extension Assay | [79] | |||
| Phenylketonuria (PKU) | Amino acid metabolism | Phenylalanine hydroxylase | Mouse liver samples | Label-free LC-MS/MS spectral count |
[80] |
| Cystinuria [81] | Inborn errors of metabolism | Variants in genes SLC3A1 (type I) SLC7A9 (type II and type III) |
Human urine samples | LC-MS/MS TMT labelling |
[82] |
| Human exosomes urine samples | Label-free LC-MS/MS | [83] | |||
| Human urine samples | Label-free LC-MS/MS spectral count |
[84] | |||
| Human urine samples | LC-MS/MS TMT labelling |
[85] | |||
| Niemann-Pick type C disease | Cholesterol metabolism | HE1 | Mouse corpus callosum | Label-free LC-MS/MS | [86] |
| Lesch-Nyhandisease | Purine metabolism | Hypoxanthine-guanine phosphoribosyl transferase | Induced pluripotent stem cell (iPSC) lines from fibroblast | Label-free LC-MS/MS | [87] |
| VLCAD deficiency disease | Fatty acid oxidation disorder | Variants in VLCAD | Human primary cell lines with VLCAD and TFP mutations |
Label-free LC-MS/MS | [88] |
| SCAD deficiency disease | Fatty acid oxidation disorder | Variants in SCAD | Primary fibroblasts culture | Label-free LC-MS/MS | [89] |
| Duchenne muscular dystrophy (DMD) | Dystrophinopathies | Dystrophin | Human blood samples (plasma and serum) | Antibody suspension bead arrays | [36] |