2 documents found, page 1 of 1
Copper Toxicity Associated With an ATP7A-Related Complex Phenotype
Natera-de Benito, Daniel; Sola, Abel; Sousa, Paulo Rego; Boronat, Susana; Expósito-Escudero, Jessica; Carrera-García, Laura; Ortez, CarlosThe ATP7A gene encodes a copper transporter whose mutations cause Menkes disease, occipital horn syndrome (OHS), and, less frequently, ATP7A-related distal hereditary motor neuropathy (dHMN). Here we describe a family with OHS caused by a novel mutation in the ATP7A gene, including a patient with a comorbid dHMN that worsened markedly after being treated with copper histidinate.
Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes
Montero, Raquel; Grazina, Manuela; López-Gallardo, Ester; Montoya, Julio; Briones, Paz; Navarro-Sastre, Aleix; Land, John M.; Hargreaves, Iain P.We evaluated coenzyme Q10 (CoQ) levels in patients studied under suspicion of mitochondrial DNA depletion syndromes (MDS) (n = 39). CoQ levels were quantified by HPLC, and the percentage of mtDNA depletion by quantitative real-time PCR. A high percentage of MDS patients presented with CoQ deficiency as compared to other mitochondrial patients (Mann–Whitney-U test: p = 0.001). Our findings suggest that MDS are f...