Background Molybdenum cofactor deficiency (MoCD) (OMIM # 252150) is an autosomal-recessive disorder caused by mutations in four genes involved the molybdenum (MOCO) biosynthesis pathway. Objectives We report a milder phenotype patient with MOCS1 gene mutation who presented Leigh-like presentation. Case present case of 10-year-old boy was symptomatic at age 5 months sudden onset dyskinesia, nyst...

BackgroundVolatile anaesthetics are widely used in human medicine. Although generally safe, hypersensitivity and toxicity can occur rare cases, such as certain genetic disorders. Anaesthesia is well-documented a subset of mitochondrial diseases, but whether volatile toxic this setting has not been explored.MethodsWe exposed Ndufs4(−/−) mice, model Leigh syndrome, to isoflurane (0.2–0.6%), oxyge...

We report unusual MR serial imaging and electron microscopy findings in a 3-year-old boy who had Leigh syndrome with cytochrome-c oxidase (cox) deficiency. The MR imaging findings included periventricular white matter involvement, posteroanterior progression, and extension through the corpus callosum and internal capsule; however, no basal ganglia or brain stem abnormality was found, which was ...

Biotin-thiamine responsive basal ganglia disease (BTBGD) is a rare metabolic condition caused by mutations in the SLC19A3 gene. BTBGD presents with encephalopathy and significant disease progression when not treated with biotin and/or thiamine. We present a patient of Mexican and European ancestry diagnosed with BTBGD found to have compound heterozygous frameshift mutations, one novel. Our repo...