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Barić I, Erdol S, Saglam H, et al. Glycine N-Methyltransferase Deficiency: A Member of Dysmethylating Liver Disorders?. JIMD Rep. 2016;31:101-106doi: 10.1007/8904_2016_543.
Barić, I., Erdol, S., Saglam, H., Lovrić, M., Belužić, R., Vugrek, O., Blom, H. J., & Fumić, K. (2017). Glycine N-Methyltransferase Deficiency: A Member of Dysmethylating Liver Disorders?. JIMD reports, 31101-106. https://doi.org/10.1007/8904_2016_543
Barić, Ivo, et al. "Glycine N-Methyltransferase Deficiency: A Member of Dysmethylating Liver Disorders?." JIMD reports vol. 31 (2017): 101-106. doi: https://doi.org/10.1007/8904_2016_543
Barić I, Erdol S, Saglam H, Lovrić M, Belužić R, Vugrek O, Blom HJ, Fumić K. Glycine N-Methyltransferase Deficiency: A Member of Dysmethylating Liver Disorders?. JIMD Rep. 2017;31:101-106. doi: 10.1007/8904_2016_543. Epub 2016 May 21. PMID: 27207470; PMCID: PMC5388635.
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JIMD Rep. 2017;31:101-106. doi: 10.1007/8904_2016_543. Epub 2016 May 21.

Glycine N-Methyltransferase Deficiency: A Member of Dysmethylating Liver Disorders?.

JIMD reports

Ivo Barić, Sahin Erdol, Halil Saglam, Mila Lovrić, Robert Belužić, Oliver Vugrek, Henk J Blom, Ksenija Fumić

Affiliations

  1. Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia. [email protected].
  2. School of Medicine, University of Zagreb, Zagreb, Croatia. [email protected].
  3. Division of Metabolism, Department of Pediatrics, Uludag University Faculty of Medicine, Gorukle, Bursa, Turkey.
  4. Department of Laboratory Diagnostics, University Hospital Center Zagreb, Zagreb, Croatia.
  5. Department of Molecular Medicine, Institute Ru?er Boškovi?, Zagreb, Croatia.
  6. Department of General Pediatrics, Adolescent Medicine and Neonatology, University Medical Centre Freiburg, Freiburg, Germany.

PMID: 27207470 PMCID: PMC5388635 DOI: 10.1007/8904_2016_543

Abstract

Glycine N-methyltransferase deficiency is an inherited disorder of methionine metabolism, reported so far in only four patients and characterised by permanent hypermethioninemia. This disorder has been considered as probably benign because moderate hepatomegaly in two patients was the only obvious symptom and mild to moderate elevation of aminotransferases the only laboratory abnormality. Our experience with the current novel patient points out that this disease, due to very high hypermethioninemia, is not harmless and that there may be diagnostic pitfalls in interpretation of biochemical hallmarks of the disease. Since the first description of glycine N-methyltransferase deficiency, other disorders of this metabolic pathway affecting the liver have been reported pointing to dysmethylation as the common pathogenetic mechanism. Therefore, we suggest the whole group to be named dysmethylating liver diseases.

Keywords: Glycine-N-methyltransferase deficiency; Hypermethioninemia; Inherited liver disease; Methylation disorders

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