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Lipoamide dehydrogenase deficiency: A new cause for recurrent myoglobinuria
Author(s) -
Elpeleg O.N.,
Saada A.B.,
Shaag A.,
Glustein J.Z.,
Ruitenbeek W.,
Tein I.,
Halevy J.
Publication year - 1997
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/(sici)1097-4598(199702)20:2<238::aid-mus18>3.0.co;2-z
Subject(s) - myoglobinuria , medicine , center (category theory) , unit (ring theory) , pediatrics , psychology , chemistry , rhabdomyolysis , mathematics education , crystallography
Inborn errors of pyruvate metabolism and the mito chondrial respiratory chain are rarely associated with recurrent myoglobinuria. A defect in the proteins containing iron-sulfur clusters, including compo nents of the Krebs cycle and the mitochondrial re spiratory chain, was found in 1 patienth and dele tions of m ito ch o n d rial DNA (mtDNA) were reported in 3 patients .8,13 Severe coenzyme Q defi ciency in muscle was detected in 2 sisters who sufferd since early childhood from recurrent myoglobinuria and myopathy, short stature, seizure disorder, and cerebellar symptoms. 11 We describe a 37-year-old man with recurrent myoglubinuria and lactic acide mia due to deficiency of the mitochondrial enzyme lipoamide dehydrogenase (LAD).