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Faltering growth prompted an insulin tolerance test which confirmed growth hormone sufficiency and adrenal insufficiency. Plasma renin was elevated and adrenal androgens were low, suggesting primary adrenal insufficiency. Glucocorticoid and mineralocorticoid replacement therapy was initiated. A renal tubular Fanconi syndrome and diabetes mellitus developed subsequently. Sideroblastic anaemia and primary adrenal insufficiency, both individually and collectively, are associated with mtDNA deletion; however, absence of the same does not exclude the possibility that sideroblastic anaemia and primary adrenal insufficiency are of mitochondrial origin.<\/jats:p>","DOI":"10.1136\/bcr-2014-208514","type":"journal-article","created":{"date-parts":[[2015,2,26]],"date-time":"2015-02-26T07:17:41Z","timestamp":1424935061000},"page":"bcr2014208514","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Sideroblastic anaemia and primary adrenal insufficiency due to a mitochondrial respiratory chain disorder in the absence of mtDNA deletion"],"prefix":"10.1136","volume":"2015","author":[{"given":"Michael J","family":"O'Grady","sequence":"first","affiliation":[{"name":"Department of Paediatrics, Midland Regional Hospital, Mullingar, 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