Metabolic medicine

 

 

Project management:

Dr. med. Dr. rer. nat. Nils Janzen,

Dr. med. Thomas Neiße

 

Contact:

Dr. Dr. Nils Janzen
Phone: 0511 532 3030
email: janzen.nils@mh-hannover.de


Research concepts:

  • Metachromatic leukodystrophy (MLD)
    Financial support: ORCHARD, In cooperation with ArchimedLife, Vienna (Dr. Kasper), Univ.Children's Hospital Tübingen (Prof. Gröschel), Laboratoire de Biochimie Métabolique, IBC - Hôpital Charles Nicolle (Prof. Soumeya Bekri).
    Screening of sulfatides from dried blood samples of newborns for rapid detection of MLD; determination of ARSA activity from dried blood (second tier) and genetic confirmation (third tier). Therapy and monitoring is provided by the University Children's Hospital Tübingen (Prof. Gröschel).
  • Nephrotic cystinosis
    In cooperation with the Metabolic Department of the Children's Hospital of the Hannover Medical School (Prof. Dr. med. Anibh M. Das)
    Determination of the cysteamine concentration in the plasma of children with cystinosis who receive the drug CYSTAGON ®.
  • Expansion of newborn screening to include the detection of other diseases (feasibility study)
    In cooperation with the Metabolism Department of the Children's Hospital at Hannover Medical School (Prof. Dr. med. Anibh M. Das). In newborn screening, other diseases can be determined in addition to the target diseases specified in the "Children's Guidelines". The reliability of the determination and the therapeutic benefits are to be demonstrated in the feasibility study. The following additional diseases are covered: Carnitine transporter defect, citrullinemia, 3-hydroxy-3-methylglutaryl-CoA lyase deficiency, propionic acidemia, multiple acyl-CoA dehydrogenase deficiency (glutaraciduria type II), disorders of remethylation, methylmalonic aciduria and disorders of vitamin B12 metabolism, Hypermethioninemia, homocystinuria, argininosuccinate lyase deficiency, aromatic L-amino acid decarboxylase (AADC) deficiency, arginase deficiency, X-linked adrenoleukodystrophy, serine deficiency syndrome, guanidinoacetate methyltransferase (GAMT) deficiency + arginine: Glycine amidinotransferase (AGAT) deficiency, adenosine deaminase (ADA) deficiency, 2,4-dienoyl-CoA reductase (DECR) deficiency
  • Determination of immunosuppressants from dried blood
    In cooperation with the Clinical Department of Paediatric Kidney, Liver and Metabolic Diseases (PD Dr. med. Nele Kanzelmeyer)
  • Determination of lipids in dried blood
    In cooperation with the Clinical Department of Paediatric Kidney, Liver and Metabolic Diseases (Prof. Dr. med. A.M. Das, Chr. Menke), Children's Hospital AUF DER BULT (Prof. Dr. med. O. Kordonouri, Dr. med. S. Arens). The aim of the feasibility study is the determination of total cholesterol, LDL, triglycerides, HDL or apolipoprotein B from small amounts of dried blood to detect children with a hereditary risk of a lipid metabolism disorder
  • Determination of TREC (T-cell receptor excision circles) in children with cardiac diseases
    In cooperation with the Clinical Department of Paediatric Cardiology and Intensive Care Medicine (PD Dr. med. Martin Böhne, Chr. Kammeyer)

 

Selected publications:

  • Das AM, Ballhausen D, Haas D, Häberle J, Hagedorn T, Janson-Mutsaerts C, Janzen N, Sander J, Freisinger P, Karall D, Meyer U, Mönch E, Morlot S, Rosenbaum-Fabian S, Scholl-Bürgi S, Vom Dahl S, Weinhold N, Zeman J, Lange K. Diagnosis, treatment, management and monitoring of patients with tyrosinaemia type 1: Consensus group recommendations from the German-speaking countries. J Inherit Metab Dis. 2025 Jan;48(1):e12824. doi: 10.1002/jimd.12824. Review. PubMed PMID: 39676394; PubMed Central PMCID: PMC11647197.
  • Hoppe B, Martin-Higueras C, Borghese L, Kaspar S, Reusch B, Beck BB, Walli A, Janzen E, Hegert S, Janzen N, Hohenfellner K. Effective Newborn Screening for Type 1 and 3 Primary Hyperoxaluria. Kidney Int Rep. 2025 Jan;10(1):177-183. doi: 10.1016/j.ekir.2024.10.006. eCollection 2025 Jan. PubMed PMID: 39810772; PubMed Central PMCID: PMC11725795.
  • Brunkhorst L, Terhardt M, Bulitta B, Gutting M, Janzen N, Haffner D, Kanzelmeyer N. Dried Blood Spot Sampling for Monitoring Children With Immune-Mediated Glomerulopathies and After Kidney Transplantation. Kidney Int Rep. 2024 Nov;9(11):3236-3249. doi: 10.1016/j.ekir.2024.08.012. eCollection 2024 Nov. PubMed PMID: 39534197; PubMed Central PMCID: PMC11551135
  • Laugwitz L, Mechtler TP, Janzen N, Oliva P, Kasper AR, Teunissen CE, Bürger F, Janda J, Döring M, Weitz M, Lang P, Martin P, Beck-Woedl S, Chanson C, Essing MM, Shenker A, Haack TB, Schulte JH, Rosewich H, Streubel B, Kasper DC, Groeschel S. Newborn Screening and Presymptomatic Treatment of Metachromatic Leukodystrophy. N Engl J Med. 2024 Oct 3;391(13):1256-1258. doi: 10.1056/NEJMc2407165. Epub 2024 Sep 18. PubMed PMID: 39292923.
  • Mütze U, Gleich F, Haas D, Urschitz MS, Röschinger W, Janzen N, Hoffmann GF, Garbade SF, Syrbe S, Kölker S. Vitamin B12 Deficiency Newborn Screening. Pediatrics. 2024 Aug 1;154(2). doi: 10.1542/peds.2023-064809. PubMed PMID: 39040028.
  • Bekri S, Bley A, Brown HA, Chanson C, Church HJ, Gelb MH, Hong X, Janzen N, Kasper DC, Mechtler T, Morton G, Murko S, Oliva P, Tebani A, Wu THY. Higher precision, first tier newborn screening for metachromatic leukodystrophy using 16:1-OH-sulfatide. Mol Genet Metab. 2024 May;142(1):108436. doi: 10.1016/j.ymgme.2024.108436. Epub 2024 Mar 22. PubMed PMID: 38552449.
  • Reischl-Hajiabadi AT, Okun JG, Kohlmüller D, Manukjan G, Hegert S, Durner J, Schuhmann E, Hörster F, Mütze U, Feyh P, Hoffmann GF, Röschinger W, Janzen N, Opladen T. Newborn screening for aromatic l-amino acid decarboxylase deficiency - Strategies, results, and implication for prevalence calculations. Mol Genet Metab. 2024 Mar;141(3):108148. doi: 10.1016/j.ymgme.2024.108148. Epub 2024 Jan 31. PubMed PMID: 38302374.
  • Janda J, Hegert S, Bzdok J, Tesorero R, Holtkamp U, Burggraf S, Schuhmann E, Hörster F, Hoffmann GF, Janzen N, Okun JG, Becker M, Durner J. High Throughput Newborn Screening for Sickle Cell Disease - Application of Two-Tiered Testing with a qPCR-Based Primary screen. Clin Padiatr. 2023 Nov;235(6):366-372. doi: 10.1055/a-2153-7789. Epub 2023 Sep 25. PubMed PMID: 37748509; PubMed Central PMCID: PMC10635756
  • Maier EM, Mütze U, Janzen N, Steuerwald U, Nennstiel U, Odenwald B, Schuhmann E, Lotz-Havla AS, Weiss KJ, Hammersen J, Weigel C, Thimm E, Grünert SC, Hennermann JB, Freisinger P, Krämer J, Das AM, Illsinger S, Gramer G, Fang-Hoffmann J, Garbade SF, Okun JG, Hoffmann GF, Kölker S, Röschinger W. Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples. J Inherit Metab Dis. 2023 Nov;46(6):1043-1062. doi: 10.1002/jimd.12671. Epub 2023 Sep 12. PubMed PMID: 37603033.
  • Guttmann S, Bunte S, Eschrig S, Janzen N, Klemens J, Koenemann Y, Münstermann D, Neisse T, Niedergassel T, Steinhagen K, Meyer-Schlinkmann KM. Dried blood spot eluates are suitable for testing of SARS-CoV-2 IgG antibodies targeting Spike protein 1 and Nucleocapsid protein. Biochem Biophys Rep. 2023 Jul;34:101479. doi: 10.1016/j.bbrep.2023.101479. Epub 2023 Apr 25. PubMed PMID: 37125078; PubMed Central PMCID: PMC10126220.
  • Hübner V, Hannibal L, Janzen N, Grünert SC, Freisinger P. Methionine Adenosyltransferase I/III Deficiency Detected by Newborn Screening. Genes (Basel). 2022 Jun 27;13(7). doi: 10.3390/genes13071163. PubMed PMID: 35885946; PubMed Central PMCID: PMC9323693.
  • Mütze U, Nennstiel U, Odenwald B, Haase C, Ceglarek U, Janzen N, Garbade SF, Hoffmann GF, Kölker S, Haas D. Sudden neonatal death in individuals with medium-chain acyl-coenzyme A dehydrogenase deficiency: limit of newborn screening. Eur J Pediatr. 2022 Jun;181(6):2415-2422. doi: 10.1007/s00431-022-04421-y. Epub 2022 Mar 16. PubMed PMID: 35294644; PubMed Central PMCID: PMC9110443