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.
Meta IMD™ was launched in September 2016 as a CLIA laboratory-developed test and is an adjunctive, first-line clinical tool that can save time to diagnosis and potentially thousands of dollars in associated costs. It offers a comprehensive analysis of hundreds of metabolites associated with a wide range of inherited metabolic disorders. Meta IMD is not meant to replace diagnostic testing for specific conditions, but provides detailed biochemical information to assist physicians in deciding what additional clinical tests are needed to confirm or clarify a diagnosis.
The test requires only 250 µL of plasma, urine or cerebrospinal fluid (CSF). It simultaneously surveys individual metabolites and pathways across amino acids, carbohydrates, organic acids, fatty acids, neurotransmitters, nucleotides and bile acids to detect biochemical abnormalities linked to 67 IMDs. 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
- Autism spectrum disorder
- Failure to thrive
- Recurrent vomiting
- Speech and/or language delay
- 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 simultaneously evaluates hundreds of compounds using Metabolon’s proprietary technology and informatics to identify significant single metabolite or metabolic pathway abnormalities relative to a reference cohort. The test is supported by analytical validation of hundreds of metabolites and 67 clinically validated inherited metabolic disorders.
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.
Requirements & Limitations
Meta IMD must be ordered by a physician and accompanied by detailed clinical information. Special diets, supplements and medications should be disclosed. TPN is known to affect test results.
A few of the key limitations are listed below.
The test does not measure:
- Proteins or large peptides
- Complex oligosaccharides
- Large lipids
- Elements such as potassium or sodium
Meta IMD is not intended to identify lysosomal disorders, congenital disorders of glycosylation, mucopolysaccharidoses, mucolipidoses, or similar large-molecule disorders. However, it can detect relative abnormal levels of metabolites that are the building blocks of small molecules associated with these disorders.
About Inherited Metabolic Disorders
Inherited metabolic disorders, also known as inborn errors of metabolism, are rare genetic disorders in which the body cannot properly turn food into energy. The disorders are usually caused by defects in specific proteins (enzymes) that help metabolize parts of food.
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 Meta-IMD@metabolon.com or 1.844.363.META (1.844.363.6382).