Unusual occurrence of intestinal pseudo obstruction in a patient with maternally inherited diabetes and deafness (MIDD) and favorable outcome with coenzyme Q10

Abstract

Maternally inherited diabetes and deafness (MIDD) has been related to an A to G transition in the mitochondrial tRNA Leu (UUR) gene at the base pair 3243. This subtype of diabetes is characterized by maternal transmission, young age at onset and bilateral hearing impairment. Besides diabetes and deafness, the main diagnostic features, a wide range of multisystemic symptoms may be associated with the A3243G mutation. Organs that are most metabolically active, such as muscles, myocardium, retina, cochlea, kidney and brain are frequently affected. Gastrointestinal tract symptoms are also common in patients with mitochondrial disease and constipation and diarrhea are the most frequent manifestations. However, there are few prior reports of intestinal pseudo obstruction in MIDD patients. Here we report the case of a patient with MIDD associated with the mtDNA A3243G mutation who developed chronic intestinal pseudo obstruction, and the introduction of Coenzyme Q10 as adjunctive therapy led to a solution of the pseudo obstruction.

Gastrointestinal manifestations of mitochondrial disorders: a systematic review

“…In single cases it may be of such an intensity that colectomy may be necessary [Prayson and Wang, 1998]. Constipation has been particularly reported in MELAS [Prayson and Wang, 1998], maternally inherited diabetes and deafness (MIDD) [Bergamin et al 2008], autosomal dominant optic atrophy (ADOA) [Bonneau et al 2014], Alpers–Huttenlocher disease (AHD) [Crimmins et al 1993], and nonsyndromic MIDs [Spiegler et al 2011] (Table 2). GI dysmotility with markedly delayed emptying and megacolon requiring surgery has been also reported in MNGIE [Chapman et al 2014; Bhardwaj et al 2012].…”

Diabetes, deafness and renal disease

“…Unfortunately, specific treatments are unknown for the majority of mitochondrial diseases, including MIDD [ 4 ]. Whereas supplemental oral coenzyme Q has been shown to be effective in mitochondrial diseases caused by mutations on the coenzyme Q10 biosynthesis, in MIDD it has shown conflicting results [ 1 , 5 ]. The correct diagnosis allows family screening and proper follow-up, and spares the patient the inadequate use of immunosuppression considered for idiopathic FSGS and other potentially harmful therapies such as metformin and statins.…”

Is there a place for coenzyme Q in the management of metabolic disorders associated with obesity?

“…A clinical intervention study in diabetic patients with this mutation (n = 15) showed that CoQ10 supplementation could improve fatigue, paresthesia in the legs, palpitation and chest discomfort, constipation, and sleep disturbances 66 . Three other case studies reported that CoQ supplementation in patients with this same condition prevented exercise intolerance, hearing loss, and the progressive defect of insulin secretion, 67 improved gastrointestinal symptoms, 68 and improved the symptoms of fatigue, paresthesia in the legs, and residual urine in bladder, associated with an improvement in neurological parameters 69 . Finally, another case study of patients with mitochondrial diabetes and congestive heart failure reported the gradual improvement of left ventricular function, associated with increases in fractional shortening and improvement of systolic function upon CoQ10 supplementation 70 …”