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Diagnostics The analysis of mitochondrial disease involves the integration
of different medical specialties organized in subsequent stages.
The results of laboratory and instrument analysis are integrated
with clinical examination, family and natural history of the patient.
The clinical evaluation of children with suspected mitochondrial
pathology is carried out in the Metabolic Unit of the Division
of Child Neurology at the National Neurological Institute,
under the supervision of Dr. Graziella
Uziel. These diseases strike primarily the brain and skeletal
muscle. Therefore neuroradiological evaluation based on brain Magnetic
Resonance Imaging (MRI) and/or mass spectrometry, and neurophysiological
studies including Evoked Potentials and EEG are routinely performed.
However, the most fundamental exam in most cases is the muscle biopsy,
which is used for morphological studies by light and electronic
microscopy and provides the biological material indispensable for
biochemical analysis of the respiratory chain and for mutation analysis
on candidate genes. Muscle biopsy is particularly useful in pediatric
cases, in which symptoms are often unspecific and it is therefore
not possible to establish a sure analysis only on the basis of clinical
examination. Analysis on body fluids Blood and urine tests are useful for a preliminary screening. Metabolic screening for suspected mitochondrial
disease
B=blood U=urine CSF=cerebro-spinal fluid Results of these analyses can already orient the specialist toward the correct diagnosis specialist. Negative results, however, do not completely exclude the hypothesis of a mitochondrial disease. If the suspect persists, it is advisable to repeat the assays under energy stress, for instance during a spontaneous metabolic crisis or by inducing a metabolic stress (by prolonged fasting , glucose or fatty acid load, etc). These tests must be carried out under close supervision in a specialized hospital. |
