(s)-3-hydroxybutyrylcarnitine to hexanoylglycine

Numerator Metabolite

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

Denominator Metabolite

Structure of hexanoylglycine
Metabolite Accession: GCST90199781
Name: hexanoylglycine
Hmdb Id: HMDB0000701
Super Pathway: NA
Sub Pathway: NA
Inchikey: UPCKIPHSXMXJOX

Associated Genomic Regions

Region: rs2275378

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

Clumped rQTL variant

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SNP Summary

Chr:
1
Beta (Ratio):
0.430
Position:
76198436
SE (Ratio):
0.024
Effect Allele:
C
Z-score (Ratio):
17.976
Reference Allele:
T
-log10(P):
-164.688
MAF:
0.336
Beta (Num):
0.151
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.279
SE (Den):
0.019
No CNV overlap
rQTL cluster:
161
Reaction Distance:
NA
Closest Genes:
ACADM RABGGTB MSH4 SLC44A5 ASB17

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid beta-oxidation, ketone body metabolism

Denominator Metabolite Explanation:

Fatty acid metabolism, xenobiotic detoxification

Ratio Explanation:

Elevated ratio of (s)-3-hydroxybutyrylcarnitine to hexanoylglycine suggests impaired fatty acid oxidation due to ACADM deficiency, leading to alternative metabolite conjugation.3[1], 4[2], 5[3]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Deficient ACADM activity leads to an accumulation of upstream fatty acid oxidation intermediates, resulting in their conversion to (s)-3-hydroxybutyrylcarnitine and hexanoylglycine.

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