Familial Mitochondrial Complex I Deficiency with an Abnormal Mitochondrial Encoded Protein

Abstract

Six of seven male full sibs of Moroccan descent, consecutively indicated as A–G, had neonatal onset disease. Four (A, B, D, F) died, probably all from the same disorder. In four cases (D, E, F, G) neonatal onset lactic acidosis was documented. In cases E and G muscle biopsy was undertaken. A deficiency of NADH:Q1 oxidoreductse (complex I) was revealed in both. A liver biopsy in case G revealed the same abnormality. Patient histories and data on the mitochondrial function studies in cases E and G are given by Wijburg et al. (1989).