Studies with Longitudinal Patient Monitoring

Centogene is conducting observational studies on numerous indications utilizing highly innovative analytical platforms based on genomics, proteomics and metabolomics. Our studies yield a rich collection of genetic, biochemical and clinical data collected within the frame of longitudinal patient monitoring.

  1. Studies with Longitudinal Patient Monitoring

Combined Metabolic Program

Each of the inherited metabolic diseases is rare, but since their number is rather high, as a group they affect 1-2% of all live newborns. Inborn errors of metabolism represent significant burden for public health. Typically, frequency estimations were calculated from the incidence of “classical” inherited metabolic diseases, such as aminoacidopathies, organic acidurias, fatty acid oxidation disorders, various storage disorders, disorders of mitochondrial energy production, neurotransmitter defects, peroxisomal disorders, defects of purine and pyrimidine metabolism and some others. But, there have been new groups of the inherited metabolic diseases described recently, such as cholesterol biosynthesis defects (e.g., Smith-Lemli- Opitz syndrome) as important monogenetic cause of malformation syndromes, congenital disorders of glycosylation (CDG syndromes) causing a broad spectrum of hemostasiological, endocrinological, and neurological multi-system disorders, and defects in leukotriene synthesis, which further increase the frequency of inherited metabolic diseases. 

Newly discovered inborn errors are also the reflection of novel powerful diagnostic techniques. In vivo nuclear magnetic resonance (NMR) spectroscopy of the brain has contributed to the definition of creatine deficiency syndromes, a newly discovered group of disorders causing mental retardation and other neurological symptoms.





Hence, the field if inborn errors of metabolism is permanently and quickly increasing, both by its size and our knowledge. To improve the understanding of these diseases it is necessary to have simple and reliable markers, so called biomarkers, that allow to simplify the diagnosis, reduce the costs and stabilizes the diagnostic workflow in the sense of technical sensitivity, specificity and robustness.  

It is goal of the study to develop systematic biomarkers (here we call a biomarker a small molecule that allows to diagnose the diseases based on Tandem-Mass-Spectrometry) for more than 150 different inherited metabolic diseases in a global cohort.

Metabolical Diseases

  • Adenosine deaminase deficiency
  • Adrenal hyperplasia, congenital 3-Beta-hydroxysteroid dehydrogenase 2 deficiency
  • Adrenal hyperplasia, congenital Steroid 11-beta-hydroxylase
  • Adrenal hyperplasia, congenital Steroid Cytochrome P450 21-Hydroxylase
  • Adrenoleukodystrophy 
  • ALA dehydratase deficiency porphyria Porphyria, acute hepatic
  • Aldolase A deficiency (GSD 12)
  • Aldolase B Deficiency
  • Alkaptonuria
  • Antley-Bixler syndrome,  Cytochrome P450 oxidoreductase
  • Argininemia
  • Argininosuccinate synthetase-1
  • Argininosuccinic aciduria 
  • Aromatase deficiency
  • Aspartylglucosaminuria
  • Aspartylglucosaminuria
  • Autosomal dominant hypophosphatemic rickets (ADHR) 
  • Carbamoylphosphate synthetase I deficiency
  • Citrullinemia, Solute Carrier Family 25 (Citrin) Member 13
  • Classic Galactosemia
  • Congenital disorder of glycosylation, type It (GSD 14) (CDG1T)
  • Coproporphyria, Hereditary
  • Coronary artery disease Apolipoprotein(a); LPA
  • Crigler-Najjar syndrome
  • Cystinosis
  • Cystinuria
  • Danon disease 
  • Danon disease (Lysosome-Associated Membrane Protein 2;)
  • Dubin-Johnson syndrome 
  • Fabry Disease
  • Familial hyperalphalipoproteinemia
  • Familial Hypercholesterolemia
  • familial hypertrophic cardiomyopathy-6 (CMH6)
  • Familial LCAT Deficiency (Norum disease)
  • Familial ligand-defective apo-B
  • Fanconi-Bickel syndrome Glucose Transporter 2; GLUT2
  • Farber 
  • Forbes Disease (GSD 3) Amylo-1,6-Glucosidase Dificiency
  • Fucosidosis
  • Galactokinase deficiency Galactosemia II
  • Galactose epimerase deficiency Galactosemia III
  • Galactosialidosis
  • Gaucher Disease
  • Gilbert syndrome
  • Glucose-6-phosphate Dehydrogenase Deficiency
  • GLUT1 Deficiency Sydrome 1
  • Glycogen Branching Enzme Deficiency (GSD 4) Andersen Disease
  • Glycogenin deficiency (GSD 15)
  • GM1 Gangliosidoses 
  • GM2 Activator Deficiency
  • GM2 Gangliosidoses
  • Hartnup disorder 
  • Hemochromatosis Type 1/2A/3/4
  • Hers Disease (GSD 6) Phosphorylase Deficiency Glycogen-Storage Dosease of Liver
  • Homocystinuria, B6-responsive and nonresponsive types 
  • Hunter (MPS2)
  • Hurler (MPS1)
  • Hyperglycerolemia Glycerol Kinase Deficiency
  • Hyperlipoproteinemia Type Ia (Familial Lipoprotein Lipase Deficiency)
  • Hyperlipoproteinemia Type Ib (Apolipoprotein C-II Deficiency)
  • Hyperlipoproteinemia Type III (Coronary artery disease)
  • Hyperlipoproteinemia Type V (Hyperchylomicronemia, late-onset )
  • Hypophosphatasia (infantile, childhood, adult)
  • Hypophosphatemic rickets, autosomal recessive, 2 
  • Infantile Refsum Disease (IRD)
  • Krabbe
  • Lactate dehydrogenase A deficiency (GSD 11)
  • Lesch-Nyhan syndrome 
  • Lipoprotein Lipase Deficiency
  • Liver Glycogen Synthase Deficiency (GSD 0a)
  • Lysinuric protein intolerance
  • Mannosidosis, alpha-, types I and II 
  • Mannosidosis, beta 
  • Maple syrup urine disease-MSUD
  • Maroteaux-Lamy Syndrome (MPS VI)
  • McArdle Disease (GSD 5) Muscle glycogen phosphorylase deficiency
  • Menkes Disease
  • Metachromatic Leucodystrophy
  • Methylmalonic aciduria
  • Morquio MPS4a
  • Morquio MPS4b
  • Mucolipidosis II alpha/beta and III alpha/beta 
  • Mucolipidosis III gamma
  • Mucolipidosis IV
  • Multiple sulphatase deficiency
  • Muscle beta-enolase deficiency (GSD 13)
  • N-acetylglutamate synthase deficiency
  • Natowicz Syndrome (MPS IX)
  • Neuronal Ceroid Lipofuscinosis NCL1
  • Neuronal Ceroid Lipofuscinosis NCL10
  • Neuronal Ceroid Lipofuscinosis NCL2
  • Neuronal Ceroid Lipofuscinosis NCL3
  • Neuronal Ceroid Lipofuscinosis NCL5
  • Neuronal Ceroid Lipofuscinosis NCL6
  • Neuronal Ceroid Lipofuscinosis NCL7
  • Neuronal Ceroid Lipofuscinosis NCL8
  • Niemann-Pick Disease Type A/B
  • Niemann-Pick Disease Type C1
  • Ornithine transcarbamylase 
  • Ornithine Transporter, Mitochondrial, 1; ORNT1
  • Orotic aciduria 
  • Phenylketonuria (PKU)
  • Phosphoglycerate kinase-1 deficiency
  • Phosphoglycerate mutase deficiency (GSD 10)
  • Phosphorylase kinase deficiency (GSD 9 A1/B/C/D)
  • Phosphorylase kinase deficiency (GSD 9 A1/B/C/D)
  • Phosphorylase kinase deficiency (GSD 9 A1/B/C/D)
  • Phosphorylase kinase deficiency (GSD 9 A1/B/C/D)
  • Polyglucosan body myopathy 1
  • Pompe (GSD 2)
  • Porphyria cutanea tarda 
  • Porphyria variegata
  • Porphyria, acute intermittent 
  • Porphyria, acute intermittent 
  • Porphyria, congenital erythropoietic 
  • Protoporphyria, erythropoietic, 1
  • Protoporphyria, erythropoietic, X-linked
  • Pycnodysostosis 
  • Pyrimidine Nucleotide Carrier 2 
  • Pyruvate kinase deficiency 
  • Rhizomelic Chondrodysplasia Punctata, type 1 (RCDP1)
  • Rhizomelic Chondrodysplasia Punctata, type 2
  • Rhizomelic Chondrodysplasia Punctata, type 3
  • Rotor Syndrome
  • Sandhoff Disease
  • Sanfillipo MPS3a
  • Sanfillipo MPS3b
  • Sanfillipo MPS3c
  • Sanfillipo MPS3d
  • Schindler disease
  • Sialic acid storage disease Infantile form (ISSD) and adult form (Salla)
  • Sialidosis (Deficiency of neuraminidase)
  • Sly Syndrome (MPS VII)
  • Smith-Lemli-Opitz Syndrome (SLO Syndrome)
  • Solute Carrier Family 3 (Activator of dibasic and neutral amino acid transport), Member 2
  • Steroid 17-alpha-hydroxylase deficiency
  • Tangier Disease
  • Tarui Disease (GSD 7) Muscle phosphofructokinase deficiency
  • Tay-Sachs Disease
  • Von Gierke disease (GSD 1)
  • Wilson Disease
  • Wolman Disease
  • Wolman/CESD (Cholesteryl ester storage disease)
  • Zellweger syndrome 1
  • Zellweger syndrome 10
  • Zellweger syndrome 11
  • Zellweger syndrome 12
  • Zellweger syndrome 13
  • Zellweger syndrome 26
  • Zellweger syndrome 3
  • Zellweger syndrome 4
  • Zellweger syndrome 5
  • Zellweger syndrome 6
  • Zellweger syndrome 7
  • Zellweger syndrome 8

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