{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T20:01:37Z","timestamp":1788897697557,"version":"build-2803163510"},"reference-count":26,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2008,8,16]],"date-time":"2008-08-16T00:00:00Z","timestamp":1218844800000},"content-version":"vor","delay-in-days":15,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2008,8]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>A 10\u2010year\u2010old Arabic boy of consanguineous parents has suffered eight episodes of acute liver failure with haemolysis triggered by intercurrent febrile illnesses. The first crisis occurred at 9 months of age, after which diabetes mellitus developed. By the age of 6 years, short stature, mild myopathy and later skeletal epiphyseal dysplasia also became evident. His psychosocial development and educational achievements have remained within normal limits. While there were no clear biochemical indicators of a mitochondrial disorder, an almost complete deficiency of complex I of the respiratory chain was demonstrated in liver but not in fibroblast or muscle samples. Molecular analysis of the eukaryotic translation initiation factor 2\u03b1 kinase gene (<jats:italic>EIF2AK3<\/jats:italic>) demonstrated a homozygous mutation, compatible with a diagnosis of Wolcott\u2013Rallison syndrome (WRS). This patient's course adds a new perspective to the presentation of WRS caused by mutations in the <jats:italic>EIF2AK3<\/jats:italic> gene linking it to mitochondrial disorders: recoverable and recurrent acute liver failure. The findings also illustrate the diagnostic difficulty of mitochondrial disease as it cannot be excluded by muscle or skin biopsy in patients presenting with liver disease. The case also further complicates the decision\u2010making process for liver transplantation in cases of acute liver failure in the context of a possible mitochondrial disorder. Such patients may be more likely to recover spontaneously if a mitochondrial disorder underlies the liver failure, yet without neurological features liver transplantation remains an option.<\/jats:p>","DOI":"10.1007\/s10545-008-0867-0","type":"journal-article","created":{"date-parts":[[2008,8,13]],"date-time":"2008-08-13T05:16:38Z","timestamp":1218604598000},"page":"540-546","source":"Crossref","is-referenced-by-count":23,"title":["Recurrent acute liver failure and mitochondriopathy in a case of Wolcott\u2013Rallison syndrome"],"prefix":"10.1002","volume":"31","author":[{"given":"G.","family":"Engelmann","sequence":"first","affiliation":[{"name":"Department of General Paediatrics University of Heidelberg  Im Neuenheimer Feld 153 Heidelberg Baden\u2010W\u00fcrttemberg 69120 Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Meyburg","sequence":"additional","affiliation":[{"name":"Department of General Paediatrics University of Heidelberg  Im Neuenheimer Feld 153 Heidelberg Baden\u2010W\u00fcrttemberg 69120 Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Shahbek","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Endocrinology, Hamad General Hospital Hamad Medical Corporation  Doha Qatar"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Al\u2010Ali","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Endocrinology, Hamad General Hospital Hamad Medical Corporation  Doha Qatar"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. 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