Evaluacion por Oftalmologia: Reporta anillos de Kayser-Fleischer Actividad de ceruloplasmina en plasma: 0 U/min/L (cero) (VN: 25-65 U/min/L) Concentracion de cobre en orina de 24h (medida por absorcion atomica): (VN: < 60 pg)--Antes de iniciar tratamiento con dihidrocloruro de trietilentetramina (1200 mg/d): 74 [micron]g--Al mes de tratamiento con dihidrocloruro de trietilentetramina (TRIEN): 671 pg Genotipo de
ATP7B: R1319X/R1319X (homocigota para la mutacion Arg1319Stop).
Mutational analysis for testing of
ATP7B couldn't be done owing to financial constraints.
Liu et al., "Mutational characterization of
ATP7B gene in 103 Wilson's disease patients from Southern China: identification of three novel mutations," Neuroreport, vol.
More than 500 mutations of the
ATP7B gene have been reported (2, 4, 17).
It is due to mutations of the
ATP7B gene on chromosome 13, which codes for a membrane-bound copper transporting ATPase (2).
Wilson disease results from a mutated version of the gene
ATP7B that, when inherited from both parents, causes liver and neurological damage and eventually death.
The gene implicated in copper metabolism is
ATP7B gene which is located on chromosome 13 (Chappuis, P., 2005).
The causal gene is
ATP7B (ATPase, [Cu.sup.++] transporting, [beta] polypeptide), comprising 21 exons and encoding a copper-transporting protein dependent on the energy stored in ATP (26).
Iron uptake takes place by both transferrin-dependent and independent mechanisms of brain, while copper is delivered to the brain by copper transporters, ATP7A, and
ATP7B. Membrane transporters are often quite substrate specific.
Wilson's disease is a rare autosomal recessive genetic disorder of copper metabolism characterized by numerous mutations in the
ATP7B gene on chromosome 13.
Polymorphisms in canine
ATP7B: candidate modifier of copper toxicosis in the Bedlington terrier, Vet.