Navigating You Through the Metabolic Maze

With knowledge of variants in over 750 metabolic disease genes, our rapid testing and extensive experience of metabolic disease genetics can help you diagnose and manage your patients metabolic disorder quickly and correctly.

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  1. Metabolic Disorders

Genetic Testing for Metabolic Indications

Experienced identification of hundreds of different genetic metabolic disorders with a wide range of symptoms and severity.

Symptoms relate to a genetic cause

Metabolic disorders, alternatively as Inherited Disorders of Metabolism defining a spectrum of conditions that have been defined on its biochemical basis. These disorders occur due to the failure of metabolic pathways of several different molecules, namely carbohydrates, aminoacids, fatty acids and organic acids.

For instance, Lysosomal storage disorders (LSDs) are a group of nearly 60 different metabolic diseases, and one of the largest group of metabolic diseases, caused by inherited defects in proteins essential for normal lysosomal function.

Genetic testing provides the only safe method for heterozygote screening, which is essential in X-linked LSDs, but also in increasing demand in family members with autosomal recessive LSDs.

Many tissues and organs are affected in metabolic diseases, often severally, and understanding the etiology of some of these more atypical symptoms challenges existing paradigms in diagnosis.

Referral reasons

  • Individuals presenting with the most common symptoms of a metabolic disease typically include neurological symptoms such as developmental delay, seizure, lethargy, ataxia, behavioral abnormalities, deafness, blindness, and additionally organomegaly and ophthalmologic findings.

  • Individuals with a positive family history of metabolic disease

  • Individuals without a positive family history but with symptoms resembling the specific disease indication

  • Individuals with a negative, but suspected, family history in order to perform proper genetic counseling (prenatal analyses are recommended in families of affected individuals)

Diagnostic strategy

Confirmation of a clinical diagnosis through genetic testing allows for genetic counseling and may lead to immediate medical management. For each presented case and phenotype, a full medical report will be produced including a tailored diagnostic strategy, recommendations and a differential diagnosis, if applicable.

Clinical symptoms are not always the product of the same gene or genetic variation; any diagnosis is determined as a combination of the in-depth clinical information provided and the identified genetic cause.

What do we know about metabolic diseases?

Inherited metabolic diseases are a large class of genetic diseases involving disorders of metabolism. The majority are due to defects of single genes that code for specific enzymes. Lysosomal storage disorders (LSDs) are one of the largest group of metabolic diseases. Although individually rare, together LSDs occur in at least 1/5000 live births1,2; it is estimated that every 30 minutes a child is born with an inherited LSD. Most of these disorders are autosomal recessively inherited, such as Niemann-Pick disease and Gaucher’s disease, and a few are X-linked recessively inherited, such as Fabry disease and Hunter syndrome (MPS II). In most of the disorders, problems arise due to accumulation of naturally occurring substances which then become toxic, or to the effects of reduced ability to synthesize essential compounds.

Selection of the most appropriate genetic tests and also interpretation of the results must be made with careful consideration of the clinical symptoms in each case. It is important to look for combinations of genetic changes in the genes as well as to investigate the relevance of any biomarkers in detail; this is also particularly useful for understanding clinical characteristics of patients undergoing enzyme replacement therapy.

The effectiveness of some modern treatment models using small molecules will depend on the genetics of the individual patient. With a therapeutic response possible in only 30-45% of all mutations, it is mandatory to genetically classify patients carefully to ensure they receive the most appropriate treatment.

Existing and future research aims to understand organelles at the core of the pathogenesis develop novel biomarkers and uncover potential drug targets by navigating through metabolic disorders at the subcellular level. Disseminating this knowledge to clinicians and patients empowers them to seek the latest available diagnostics, biomarkers & therapies, to monitor and manage the many inherited metabolic disorders that exist.



Single Gene Analysis


What can CENTOGENE do for you and your patients

CENTOGENE has a wealth of experience detecting a wide range of genetic metabolic diseases in patients around the world, identifying genetic variants associated with metabolic diseases in more than 750 different genes. Data from combined studies has involved >2,000,000 samples from routine analyses and international screening programs of roughly 7,000 patients diagnosed with different LSDs demonstrates our expertise in these diseases including precise epidemiological classification.

In CentoMD® we have access to the world’s largest mutation database for rare diseases, including a high proportion of unpublished variants, in which we have carefully curated all variants with clinical relevance for symptoms relating to metabolic disease, to allow the most precise diagnosis.

Overview of diagnosed LSD cases and identified mutations in one example study

Molecular diagnostics of LSDs in this study resulted in the detection of 5,361 mutations in 3,882 patients.

A little more than half of all genetically diagnosed LSD cases at CENTOGENE result in Fabry disease, followed by Hunter syndrome (MPS II), Gaucher’s disease, then Pompe, Niemann-Pick, Krabbe, Tay Sachs and Sandhoff diseases.

Scientific Articles on Metabolism

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