Mayo Clinic Laboratories > Genetics > Inborn errors of metabolism

Inborn errors of metabolism

Accurate answers to guide care and improve outcomes

With more than 1,000 inborn errors of metabolism (IEM) known to cause complex disease manifestations at all stages of life, accurate diagnosis can be a complex process. Whether testing is performed due to acute presentation or in response to an abnormal newborn screening, timely diagnosis of patients with IEM is critical to initiate treatment to avoid morbidity and mortality.

At Mayo Clinic, IEM testing is performed by an interdisciplinary team of laboratorians, geneticists, and genetic counselors — experts who provide testing and result interpretation of the highest quality. Our comprehensive test menu includes both biochemical assays and the respective molecular genetic test complement for the most detailed characterization of a patient’s condition.

> 1 in 1,000

> 1 in 1,000 individuals affected by metabolic disease1

400,000+

400,000+ biochemical genetic tests performed annually

150+

150+ biochemical genetics tests

30+

30+ publications by the biochemical Genetics Laboratory annually

Test menu

Amino and Organic Acid Metabolism Amino and Organic Acid Metabolism
Amino and Organic Acid Metabolism

Offering both molecular and functional biochemical assays, our testing for amino and organic acid metabolism can assist in diagnosing the most prevalent and treatable disorders. Among our offerings are tests for phenylketonuria, tyrosinemia, and maple syrup urine disease, as well as methylmalonic acidemias (cobalamin disorders), propionic acidemia, and glutaric acidemia. We are among the only laboratories in the world to offer chiral analysis for 2-hydroxyglutaric aciduria testing.

Carbohydrate Metabolism Carbohydrate Metabolism
Carbohydrate Metabolism

At Mayo Clinic Laboratories, testing for carbohydrate metabolism disorders includes evaluations for galactosemia and congenital disorders of glycosylation (CDG), among others. With more than two decades of experience in clinical biochemical testing for CDG, our laboratory has unequaled expertise in the industry.

Cholesterol Biosynthesis and Transport Cholesterol Biosynthesis and Transport
Cholesterol Biosynthesis and Transport

Our screening evaluations for cholesterol biosynthesis and transport disorders, which encompass a range of conditions, include testing for Smith-Lemli-Opitz and related conditions, cerebrotendinous xanthomatosis, and Niemann-Pick type C disease. Accurate diagnosis and early intervention for individuals impacted by these rare conditions is critical, as symptoms can be serious and progressive.

Creatine Disorders Creatine Disorders
Creatine Disorders

We offer a full menu of assays to screen for creatine deficiency disorders (CDD) and inborn errors of creatine metabolism and transport, which include guanidinoacetate methyltransferase (GAMT) deficiency, glycine amidinotransferase (AGAT) deficiency, and creatine transporter (CRTR) deficiency. Diagnostic testing and treatment are vital to prevent CDD-related complications.  

Lysosomal Metabolism and Storage Disorders Lysosomal Metabolism and Storage Disorders
Lysosomal Metabolism and Storage Disorders

Our comprehensive menu of evaluations to diagnose lysosomal metabolism and storage disorders includes testing for mucopolysaccharidoses, mucolipidoses, oligosaccharidosis, Pompe disease, Gaucher disease, Fabry disease, acid sphingomyelinase deficiency (ASMD), and neuronal ceroid lipofuscinoses. Diagnosis of these conditions can facilitate disease management and, in some cases, treatment.

Mitochondrial Energy Metabolism Mitochondrial Energy Metabolism
Mitochondrial Energy Metabolism

With broad and widely variable clinical features, mitochondrial disease can require multiple testing types to facilitate diagnosis. When biochemical studies, like GDF15, are abnormal, further investigations including molecular studies or muscle biopsy may be required to confirm the presence of a mitochondrial disease. We offer a full suite of biochemical and molecular testing options to assist clinicians in making diagnoses for their patients. 

Newborn Screening Newborn Screening
Newborn Screening

Our newborn screening evaluations supplement state screening programs to align with Recommended Uniform Screening Panel (RUSP) recommendations put forth by the Secretary of Health and Human Services. In addition, second-tier tests employ more sensitive methodologies and are performed on the original newborn screening specimen when the primary screening assay yields abnormal results.

Peroxisomal Biogenesis and Metabolism Peroxisomal Biogenesis and Metabolism
Peroxisomal Biogenesis and Metabolism

Our evaluations for peroxisomal biogenesis and metabolism include testing for X-ALD and Zellweger spectrum disorders. Early identification of these serious, sometimes fatal, disorders can assist in patient care and management.

Porphyrias Porphyrias
Porphyrias

Patients affected by porphyrias can present with a spectrum of nonspecific symptoms including skin manifestations, neurologic involvement, pain crisis, and digestive issues. Our comprehensive menu of testing for these disorders can assist in diagnosis and differentiation and help guide treatment decisions.

Purine and Pyrimidine Metabolism Purine and Pyrimidine Metabolism
Purine and Pyrimidine Metabolism

Our full suite of evaluations for disorders of purine and pyrimidine metabolism are useful for diagnosis and monitoring patients to optimize outcomes. Confirming diagnosis through genetic testing can facilitate early treatment — sometimes even in the delivery room — which is critical to prevent neurological decline.

Meaningful answers from testing experts

The individuals who work at the Biochemical Genetics Laboratory are recognized internationally as experts in the field of biochemical genetics and strive to provide biochemical testing and result interpretation of the highest quality. Our detailed results interpretation includes an overview of results and their significance, correlation to available clinical information, differential diagnoses, recommendations for additional testing, and a telephone number for consultation.

Test results are supported by Collaborative Laboratory Integrated Reports (CLIR). CLIR software creates and maintains an integrated database of clinical and laboratory data, which is used to produce on-demand, post-analytical tools. Our CLIR database consists of laboratory data from thousands of true positive cases. Rather than relying on a standard cutoff value, these tools merge the analysis of multiple analytes, each ranked according to clinical significance, into a single score that measures the likelihood of disease.

Resources
Learn more In addition to thoughtfully designed genetic panels for IEM, custom gene ordering is available. Through our custom gene ordering tool, genes can be added or removed from pre-existing panels.
Download Biochemical genetics test request form
References
  1. CDC Grand Rounds: Newborn Screening and Improved Outcomes. Morbidity and Mortality Weekly Report. Centers for Disease Control and Prevention. https://www.cdc.gov/mmwr/preview/mmwrhtml/mm6121a2.htm. Page updated June 1, 2012. Accessed Aug. 8, 2023.
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