Fumarate

ChemistryAlso known as: Fumaric acidmmol/mol creatinine

Detects the presence of fumarate in serum or plasma, a citric acid cycle metabolite.

Normal Range

0 – 1

mmol/mol creatinine

Abnormal Levels

< 0 mmol/mol creatinine

> 1 mmol/mol creatinine

Specimen Type

Blood

Why This Biomarker Matters

Elevated fumarate suggests mitochondrial or energy metabolism disorders. Identifying the specific condition enables targeted treatment and monitoring to manage symptoms and prevent progression.

Optimal Ranges

Clinician-defined 4-point reference thresholds (mmol/mol creatinine)

Default Range

Low

0 mmol/mol creatinine

Borderline Low

0 mmol/mol creatinine

Optimal

1 mmol/mol creatinine

Borderline High

1 mmol/mol creatinine

Overview

Fumarate is an organic acid involved in cellular energy production. Its presence in urine may indicate disruption of the citric acid cycle or mitochondrial function. Elevated urinary fumarate can be associated with fumarase deficiency, a rare mitochondrial disorder, or other metabolic conditions affecting energy metabolism. This finding may explain unexplained fatigue, muscle weakness, or developmental delays. Positive results warrant evaluation by a metabolic specialist and genetic counseling.

Technical Information (LOINC Codes)

Standardized laboratory codes for this biomarker

75081-0Primary

Fumarate [Moles/volume] in Serum or Plasma

umol/L

26799-7

Fumarate [Presence] in Urine

Available Lab Tests

Order tests that measure this biomarker

Urinary Organic Acids

$586.08

Results in 7-14 business days