4-methylhexanoylglutamine to (s)-3-hydroxybutyrylcarnitine

Numerator Metabolite

Metabolite Accession: GCST90200223
Name: 4-methylhexanoylglutamine
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of (s)-3-hydroxybutyrylcarnitine
Metabolite Accession: GCST90200088
Name: (s)-3-hydroxybutyrylcarnitine
Hmdb Id: HMDB0013127
Super Pathway: NA
Sub Pathway: NA
Inchikey: UEFRDQSMQXDWTO

Associated Genomic Regions

Region: rs7541058

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
1
Beta (Ratio):
-0.358
Position:
76199817
SE (Ratio):
0.022
Effect Allele:
T
Z-score (Ratio):
-16.373
Reference Allele:
C
-log10(P):
-137.056
MAF:
0.309
Beta (Num):
-0.206
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
0.152
SE (Den):
0.015
No CNV overlap
rQTL cluster:
161
Reaction Distance:
NA
Closest Genes:
ACADM RABGGTB MSH4 SLC44A5 ASB17

LLM Analysis

Numerator Metabolite Explanation:

Fatty Acid Metabolism (Acyl Glutamine).6[1], 7[2]

Denominator Metabolite Explanation:

Fatty acid beta-oxidation, ketone body metabolism.8[1], 9[2], 10[3]

Ratio Explanation:

Elevated ratio suggests ACADM dysfunction; 4-methylhexanoylglutamine accumulates from incomplete branched-chain fatty acid oxidation, while (s)-3-hydroxybutyrylcarnitine may decrease due to impaired ketogenesis or fatty acid oxidation.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

A defective ACADM gene, as suggested by pQTL colocalization, leads to impaired beta-oxidation of medium-chain and some branched-chain fatty acids. This results in the accumulation of upstream metabolites like 4-methylhexanoylglutamine and altered levels of downstream products such as (s)-3-hydroxybutyrylcarnitine, reflecting a systemic energy metabolism disruption.

Phenotype Driver:

Gene-centric:ACADM

Downloads

Download the full rQTL summary statistics file for this metabolite ratio. Data contains the loci listed here. For each SNP (chromosome, effect_allele, reference_allele, pos_name, position) these columns contain the summary statistics of the ratio (beta, pgain, pval, se, z), the numerator metabolite (beta_1, pval_1, n_iids_1, effect_allele_frequency_1, se_1, z_1) and the denominator metabolite (beta_2, pval_2, n_iids_2, effect_allele_frequency_2, se_2, z_2)

Download rQTL Data