Abstract
Symptoms of mitochondrial diseases and disorders of energy availability arc a consequence of abnormalities in the general function of mitochondria, the electron transport chain and related transport and assembly proteins to generate available energy in the form of ATP and to act as an effector of apoptosis. Despite the popular notion that mitochondrial diseases are always maternally inherited, disorders of energy production and/or availability can be inherited following maternal mtDNA inheritance patterns as well as Mendelian patterns. The vast majority of electron transport chain and related proteins arc encoded by nuclear DNA. Thus, the majority of disorders of energy availability are predicted to be consistent with Mendelian inheritance patterns. Previously recognized diseases with symptomatology typical of a mitochondrial disorder or deficient energy availability should be reevaluated. Additionally, chromosomal deletion disorders whose deletions encompass genes involved in energy metabolism, could result in lactic acidosis or reduced ATP availability, which could contribute to the pathogenetic mechanism of disease.
By summing all symptoms present in individual family members and considering the symptoms as if in one individual, we have been more effective in recognizing the typical systemic pattern of illness. A complete review of systems of family members is necessary to truly exclude this class of disorders.
Cross referencing, especially against a rare feature as well as the inheritance pattern significantly decreased the number of disorders in the differential diagnosis and the cost of diagnostic testing. The cross referencing system can also be used to predict those known disorders with Mendelian inheritance patterns that may be due to abnormal mitochondrial function or deficient energy availability. Examples of the cross referencing system in evaluation of patients will be presented.
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Bay, C., Matika, G. & Del Vecchio, M. Mitochondrial disease and disorders of energy metabolism: A recognizable pattern of systemic disease. Genet Med 2, 75 (2000). https://doi.org/10.1097/00125817-200001000-00086
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DOI: https://doi.org/10.1097/00125817-200001000-00086