The Power of Precision Medicine for Inherited Metabolic Disorders

Inherited metabolic disorders (IMDs) can cause developmental delays, other serious medical problems, and even death if they are not controlled. Diagnosis is essential, but often difficult because of the diversity of metabolic pathways involved and the complexities that accompany an undifferentiated phenotype.

Meta IMD™ was launched in September 2016  and is a comprehensive biochemical pathway analysis that can potentially save significant cost and time to diagnosis. Used as an adjunctive, first-line clinical test, Meta IMD helps the clinician optimize selection of confirmatory, targeted assays. It offers a comprehensive analysis of hundreds of metabolites associated with a wide range of inherited metabolic disorders, using only a small plasma sample.

The test requires only 250 µL of plasma. It simultaneously surveys individual metabolites and pathways across amino acids, carbohydrates, organic acids, fatty acids, neurotransmitters, nucleotides and bile acids to detect biochemical abnormalities associated with many IMDs. With its ability to detect more than 800 metabolites, Meta IMD may also spot disorders for which there is presently no biochemical testing available. Results are typically delivered in about 21 days.

Meta IMD should be considered for individuals with:

  • Developmental delay
  • Non-syndromic intellectual disability
  • Seizures
  • Autism spectrum disorder
  • Failure to thrive
  • Hypoglycemia
  • Recurrent vomiting
  • Speech and/or language delay
  • Hypotonia
  • Undifferentiated phenotype (possibly related to a biochemical pathway perturbation)
  • Equivocal molecular test results in a gene known to be involved in small molecule metabolism

Meta IMD tests for:

  • Amino acid metabolism disorders
  • Organic acidemias
  • Fatty acid oxidation disorders
  • Disorders of fatty acid transport
  • Purine disorders
  • Pyrimidine disorders
  • Certain mitochondrial disorders
  • MNGIE (mitochondrial neurogastrointestinal encephalopathy)
  • Creatine disorders
  • Bile acid disorders
  • Urea cycle disorders
  • Neurotransmitter disorders (previously only diagnosed in CSF)

How does Meta IMD work?

Meta IMD is a Laboratory-Developed Test (LDT) run in a CLIA-certified/CAP-accredited laboratory. The test simultaneously evaluates hundreds of compounds in a singclinically-validated-graphic.pngle plasma sample using Metabolon’s proprietary analytics and informatics to identify significant single metabolite or metabolic pathway abnormalities relative to a reference cohort.

Metabolomic profiling is a large-scale, semi-quantitative technology. It is a highly efficient small-molecule analysis for metabolites that range in size from 50 to 1,500 Da.



Meta IMD™+ is also available to provide an in-depth analyisis of the full metabolomic data set collected by Meta IMD. The service can be valuable for clinicians seeking new insights toward diagnosis or treatment beyond the clinically validated diseases.

In addition to the results already provided by Meta IMD, we will add a report identifying the most profound biochemical pathway disturbances. You will also receive a 30-minute phone consultation with one of our experts to discuss the results.


  • Comprehensive metabolic profile
  • Evaluate underlying pathway or biomarker abnormalities not measurable by other means
  • Provide suggestions for confirmatory disease testing

About Inherited Metabolic Disorders

Inherited metabolic disorders, also known as inborn errors of metabolism, are rare genetic disorders that often disrupt bodily processes such as the conversion of nutrients into energy and structural molecules, the breakdown and clearance of waste, or the synthesis and function of regulatory signals. The disorders are usually caused by defects in specific proteins (enzymes) that help facilitate these processes.

Generally, IMDs represent a group of about 500 rare genetic disorders with an overall estimated incidence of one out of 2,500 people.

Presentation of an IMD is usually in the neonatal period or infancy, but can occur at any time, even in adulthood. While some metabolic disorders are indicated by routine newborn screening tests, others are identified only after a child or adult shows symptoms of a disorder.

For more information, please contact us at or 1.844.363.META (1.844.363.6382).