Syndrome Lea

Description:

This symptom complex is characteristic not only of mutations мтДНК, but also of other groups storage (the aminoatsidopatiya, an aciduria, defects of DBB coded by nuclear genes) and some endogenous states (a tiaminov insufficiency, an alcoholic fetopathy, an alcoholism).

Syndrome reasons Lea:

In some cases inborn defects of energy balance are known: insufficiency cytochrome From an oxidase, dehydrogenase pyruvate (266150), NADH dehydrogenases (252010), ATP of a sintetaza (516060).

Syndrome symptoms Lea:

Manifestations: hypomyotonia, cerebellar symptoms, spasticity, delay or disturbance of psychomotor development, consciousness disturbance, respiratory anomalies, atrophy of optic nerves, ophthalmoplegia, vomiting, dehydration. The debut varies from the first months of life to 3 years. Sharp deterioration in clinical and biochemical indicators at infections is characteristic. Death can come from the progressing encephalopathy, is frequent - at the accompanying infections and other stressorny impacts on metabolism. At KT find typical bilateral fields of the lowered density in the field of a brainstem, a thalamus, basal ганглиев and a cerebellum; similar changes in urgent a brain. Show defects And both the IV DBB complexes and a lactacidemia. Pathomorphologic changes: demyelination, a necrosis, a gliosis, depression of neurons, proliferation of capillaries in basal gangliya, a trunk, a cerebellum and cerebral cortex. The disease Lea is considered as a final stage of defects in ATP synthesis.