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MetabolomicsRare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism

We investigated the cumulative contribution of rare, exonic genetic variants on the concentration of 1,487 metabolites and 53,714 metabolite ratios in urine by performing gene-based tests based on 226,233 variants from up to 4,864 participants of the German Chronic Kidney Disease (GCKD)...

2021-03-09 | MTBLS284 | MetaboLights
GenomicsGliomas phenocopy and inborn error of metabolism to drive neuronal activity and tumor growth
Gliomas phenocopy and inborn error of metabolism to drive neuronal activity and tumor growth
PRJNA1511839 | ENA
GenomicsGliomas phenocopy an inborn error of metabolism to drive neuronal activity and tumor growth
Gliomas phenocopy an inborn error of metabolism to drive neuronal activity and tumor growth
PRJNA1510672 | ENA
GenomicsCblX disease is both an inborn error of cobalamin metabolism and a ribosomopathy
CblX disease is both an inborn error of cobalamin metabolism and a ribosomopathy
PRJNA679313 | ENA
UnknownOutcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System.
Not available
S-EPMC5540133 | biostudies-literature
TranscriptomicsMutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism
PHARC is a neurodegenerative disease comprising early onset cataract and hearing loss, retinitis pigmentosa, and involvement of both the central and peripheral nervous systems; including demyelinating sensorimotor polyneuropathy and cerebellar ataxia. Previously, we mapped this Refsum-like disorder ...
ORGANISM(S): Homo sapiens 
2010-08-26 | E-GEOD-23151 | biostudies-arrayexpress
TranscriptomicsTranscription profiling of liver from wild type vs glycerol kinase knockout mice to understand the molecular pathogenesis of GKD
Glycerol kinase deficiency (GKD) is an X-linked inborn error of metabolism with metabolic and neurologic crises. Liver shows the highest level of glycerol kinase (GK) activity in humans and mice. Absence of genotype-phenotype correlations in patients with GKD indicate the involvement of modifier gen...
ORGANISM(S): Mus musculus 
2007-12-12 | E-GEOD-3843 | biostudies-arrayexpress
Genomicsena-DATASET-MCGILL-EDCC-12-01-2017-18:11:29:150-25 - samples
RNA sequencing of 31 patient-derived fibroblast cell lines from patients with inborn errors of cobalamin (vitamin B12) metabolism, and 7 control samples. The RNA seq library was prepared using the TruSeq Stranded Total RNA Sample Preparation Kit (Illumina RS-122–2301) including Ribo-Zero Gold deplet...
EGAD00001003142 | EGA
ProteomicsSIRT1 mediates brain metabolic and developmental consequences of methionine synthase deficiency in inborn errors of cobalamin metabolism
Inborn errors of vitamin B12 metabolism (IECM) resulting from impaired methionine synthase (MS, encoded by MTR) activity cause severe cognitive and neurological deficits that are often unresponsive to conventional B12 supplementation. Using a brain-specific Mtr knockout mouse model, we identified th...
ORGANISM(S): Mus musculus (Mouse) 
2026-01-06 | PXD071487 | Pride
Vitamin b12 deficiency Methionine synthase One-carbon metabolism Wnt signaling Inborn errors of cobalamin metabolism Sirt1  neurogenesis Energy metabolism 
GenomicsGliomas phenocopy an inborn error of metabolism to drive neuronal activity and tumor growth
The metabolic hallmarks of high-grade glioma (HGG) are not fully understood. Human brain tissue metabolomics revealed that the creatine synthesis pathway intermediate guanidinoacetate (GAA) accumulated ~100-fold in HGGs relative to controls, which was caused by imbalanced activities of enzymes in th...
ORGANISM(S): Homo sapiens 
2026-09-15 | GSE343207 | GEO
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