A rare disease of the mitochondrial respiratory chain – 3-methylglutaconic aciduria. Approach to diagnosis and rehabilitation
O Grechanina, Y Grechanina, S Biletska, I Maksyutina 
Kharkiv Interregional Specialized Medical Genetic Centre – Centre of Rare (Orphan) Diseases, Kharkiv, Ukraine
Kharkiv Research Institute of Medical Genetic of Kharkiv National Medical University, Ukraine
Introduction:  Hereditary diseases of the mitochondrial respiratory chain are detected late, do not have etiological treatment. The existence of methods for correcting oxidative phosphorylation is a motivation for early diagnostics.
Purpose: To study the clinical phenotype of a rare disease, to evaluate the effect of synthropy on the clinical and biochemical features of the pathology for developing a strategy for improving the quality of life of patients.
Description: Since 2014, 7997 patients with suspected hereditary metabolic diseases have undergone gas chromatography/mass spectrometry of urine. An increase of the level of 3-methylglutaconic acid was found in 1,070 cases. In 2 patients, its level remained elevated and coincided. Monitoring for the family lasts 5 years. Both patients are siblings 3 and 5 years old. Sick from birth - psycho-motor retardation, muscle hypotonia, pyramidal insufficiency, microcephaly, epilepsy. Excluded are the Rett and Angelmann syndrome. At the examination - nonspecific hyperaminoacidopathy, lactate-acidosis, hiperhomocysteinemia, MTHFR 677 C/T, MTRR 66 G/G (violation of cobalamin E). The treatment strategy is aimed at long-term correction of the revealed disorders in the form of a combination of energotropic and folate therapy, complex rehabilitation with the use of special nutrition (USA) and correction of natural nutrition in accordance with biochemical indicators. The quality of life of patients is progressively improving.
Conclusions: Diseases of the respiratory chain of mitochondria are many-sided, rare, in total constitute a great medical and social problem and are subject to individual etiopathogenetic and symptomatic therapy.