Pyruvate dehydrogenase complex deficiency – a rare mitochondrial disease in a 4-year-old boy

Abstract

Pyruvate dehydrogenase deficiency is a rare mitochondrial disease characterized by a wide range of neurometabolic manifestations. The disease is caused by insuffici ency of this multienzyme complex, which ensures the integration of pyruvate (the carbohydrate metabolism product) into the cellular energy metabolism. This complex deficiency is mostly caused by the mutations in the E1 alpha subunit-encoding PDHA1 (Xp22.1) gene. The article presents a clinical case of a boy with pyruvate dehydrogenase deficiency. The patient was diagnosed on the basis of a combination of clinical, laboratory and instrumental data: retardation in physical and psychomotor development, diffuse muscle hypotension, lactic acidosis, neurological manifestations, thalamus signal changes (according to magnetic resonance imaging of the brain), hemizygous mutations of the 12th exon of the PDHA1 gene during exomic DNA sequencing. We observed positive dynamics against metabolic therapy. The authors emphasize the importance of the timely diagnostics and initiation of metabolic therapy. Late diagnostics causes irreversible complications and significantly worsens the quality of patient’s life