Ethylmalonate

ChemistryAlso known as: Ethylmalonic acidumol/L

Measures ethylmalonate, an organic acid produced during metabolism.

Normal Range

0 – 3 umol/L

umol/L

Abnormal Levels

Consult your provider

Specimen Type

Blood

Why This Biomarker Matters

Elevated ethylmalonate suggests a rare genetic metabolic disorder (EDHD) affecting fat metabolism. Early detection allows for specialized treatment and dietary management to prevent neurological damage.

Understanding Your Results

Normal Range

0 – 3 umol/L

Overview

Ethylmalonate is an organic acid produced during normal fat and amino acid metabolism. Measuring ethylmalonate levels in blood helps detect rare metabolic disorders affecting fatty acid oxidation. Elevated ethylmalonate typically indicates a genetic defect in the enzyme ethylmalonyl-CoA mutase (EDHD, ethylmalonic encephalopathy). This rare condition causes neurological and developmental problems. Testing is usually ordered when investigating developmental delays, neurological symptoms, or as part of newborn screening for metabolic disorders.

Technical Information (LOINC Codes)

Standardized laboratory codes for this biomarker

79476-8Primary

Ethylmalonate [Moles/volume] in Serum or Plasma

umol/L

2265-7

Ethylmalonate [Mass/volume] in Urine

30472-5

Ethylmalonate [Presence] in Urine

82502-6

Ethylmalonate [Moles/volume] in DBS

nmol/mL

Available Lab Tests

Order tests that measure this biomarker

Urinary Organic Acids

$586.08

Results in 7-14 business days