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  • Nordenström, AnnaKarolinska Institutet (författare)

Acute liver failure in a child with Epstein-Barr virus infection and undiagnosed glycerol kinase deficiency, mimicking hemophagocytic lymphohistiocytosis.

  • Artikel/kapitelEngelska2008

Förlag, utgivningsår, omfång ...

  • 2008

Nummerbeteckningar

  • LIBRIS-ID:oai:gup.ub.gu.se/87389
  • https://gup.ub.gu.se/publication/87389URI
  • https://doi.org/10.1097/MPG.0b013e3181615cf2DOI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:117262824URI

Kompletterande språkuppgifter

  • Språk:engelska

Ingår i deldatabas

Klassifikation

  • Ämneskategori:ref swepub-contenttype
  • Ämneskategori:art swepub-publicationtype

Anmärkningar

  • Glycerol kinase deficiency (GKD, MIM 307030) is an X-linked disorder caused by impaired ability to metabolize glycerol resulting in elevated levels of glycerol in blood and urine (1). Glycerol kinase catalyzes the phosphorylation of glycerol to glycerol-3-phosphate, an important intermediate in both lipid and carbohydrate metabolism. Glycerol kinase deficiency can be found as an isolated enzyme deficiency or as part of an Xp21 contiguous gene syndrome resulting in a so-called complex form involving NR0B1 (DAX1, the locus associated with adrenal hypoplasia congenita) and the Duchenne muscular dystrophy gene. Isolated GKD may in some cases be present without symptoms; however, in other cases children with isolated GKD may present with vomiting, metabolic acidosis, ketotic hypoglycemia, lethargy, and unconsciousness. These crises can be associated with infections or strenuous physical activity (2). The patients have high concentrations of glycerol in blood and urine (3). Most laboratories determine triglyceride concentration by measuring glycerol after hydrolysis of triglycerides and make the assumption that the glycerol concentration is equal to the triglyceride concentration. This can lead to misinterpretation of the laboratory results and consequently a high level of free glycerol (before hydrolysis) in the case of GKD results in a false report of high triglyceride concentration. We describe the critical clinical course in a patient with isolated GKD who had not received a diagnosis when he acquired a fulminant Epstein-Barr virus (EBV) infection, which resulted in the development of acute liver failure. The reported elevated triglyceride levels were initially interpreted as an indication of hemophagocytic lymphohistiocytosis (HLH), which possibly complicated the clinical course. Molecular genetic investigations revealed a previously undescribed microdeletion of 4 nucleotides in the GK gene, resulting in the exclusion of 3 exons in the mRNA and an abolished enzyme activity.

Ämnesord och genrebeteckningar

Biuppslag (personer, institutioner, konferenser, titlar ...)

  • Hellerud, Christina,1955Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för klinisk kemi och transfusionsmedicin,Institute of Biomedicine, Department of Clinical Chemistry and Transfusion Medicine(Swepub:gu)xhellc (författare)
  • Lindstedt, SvenGothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för klinisk kemi och transfusionsmedicin,Institute of Biomedicine, Department of Clinical Chemistry and Transfusion Medicine(Swepub:gu)xlsvez (författare)
  • Alm, Jan (författare)
  • Fischler, BjörnKarolinska Institutet (författare)
  • Nemeth, AntalKarolinska Institutet (författare)
  • von Döbeln, UlrikaKarolinska Institutet (författare)
  • Karolinska InstitutetInstitutionen för biomedicin, avdelningen för klinisk kemi och transfusionsmedicin (creator_code:org_t)

Sammanhörande titlar

  • Ingår i:Journal of pediatric gastroenterology and nutrition47:1, s. 98-1011536-4801

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