Mitochondrial cytopathies have long been regarded as neuromuscular diseases. However, an oxidative phosphorylation disorder may give rise to various symptoms in other organs or tissues which are dependent upon mitochondrial energy supply. A broad spectrum of clinical symptoms have been described in these patients, including renal symptoms. The most frequent is proximal tubular dysfunction with a more or less complete de Toni-Debré-Fanconi syndrome. A few patients have been reported with tubular acidosis, Bartter syndrome, chronic tubulointerstitial nephritis, or nephrotic syndrome. The diagnosis of a respiratory chain deficiency is difficult when only renal symptoms are present but should be easier when another seemingly unrelated symptom is observed. Metabolic screening for abnormal oxidoreduction status in plasma, including lactate/pyruvate and ketone body molar ratios, can help to identify patients for further investigations. These include the measurement of oxygen consumption by mitochondria, the assessment of mitochondrial respiratory enzyme activities by spectrophotometric studies, and when possible, the molecular analysis of mitochondrial DNA. Any mode of inheritance can be observed: sporadic, autosomal dominant or recessive, or maternal inheritance. No satisfactory therapy is presently available for mitochondrial disorders.