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

Artikel i vetenskaplig tidskrift
Författare Anna Nordenström
Christina Hellerud
Sven Lindstedt
Jan Alm
Björn Fischler
Antal Nemeth
Ulrika von Döbeln
Publicerad i Journal of pediatric gastroenterology and nutrition
Volym 47
Nummer/häfte 1
Sidor 98-101
ISSN 1536-4801
Publiceringsår 2008
Publicerad vid Institutionen för biomedicin, avdelningen för klinisk kemi och transfusionsmedicin
Sidor 98-101
Språk en
Länkar dx.doi.org/10.1097/MPG.0b013e318161...
Ämnesord Child, Diagnosis, Differential, Epstein-Barr Virus Infections, blood, complications, diagnosis, Glycerol, blood, Glycerol Kinase, deficiency, genetics, Herpesvirus 4, Human, Humans, Liver Failure, Acute, blood, diagnosis, virology, Lymphohistiocytosis, Hemophagocytic, blood, diagnosis, Male, Multiple Organ Failure, etiology, Triglycerides, blood
Ämneskategorier Infektionsmedicin, Klinisk kemi

Sammanfattning

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.

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