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Deletion of mitochondrial DNA in a case of early‐onset diabetes mellitus, optic atrophy and deafness (DIDMOAD, Wolfram syndrome)
Author(s) -
Rötig A.,
Cormier V.,
Chatelain P.,
Francois R.,
Saudubray J. M.,
Rustin P.,
Munnich A.
Publication year - 1993
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf00711672
Subject(s) - pediatrics , medicine , diabetes mellitus , humanities , philosophy , endocrinology
Since the original report by Luft et al (1962), mitochondrial disorders have been exclusively regarded as neuromuscular diseases. We have recently shown that genetic defects of the mitochondrial energy supply can also present with pancytopenia, proximal tubulopathy, or hepatic failure as the onset symptom (Munnich et al 1992). Here, we report on a severe mitochondrial enzyme deficiency in a patient with the Wolfram syndrome (Wolfram and Wagener 1938; McKusick 222300) and we describe the deletion of the mitochondrial genome between directly-repeated sequences as the possible cause of the disease