ubiquinone and Hypoalbuminemia

Primary muscle coenzyme Q10 (CoQ10) deficiency is an apparently autosomal recessive condition with heterogeneous clinical presentations. Patients with these disorders improve with CoQ10 supplementation. In a family with ataxia and CoQ10 deficiency, analysis of genome-wide microsatellite markers suggested linkage of the disease to chromosome 9p13 and led to identification of an aprataxin gene (APTX) mutation that causes ataxia oculomotor apraxia (AOA1 [MIM606350]). The authors' observations indicate that CoQ10 deficiency may contribute to the pathogenesis of AOA1.

Topics: Amino Acid Substitution; Child, Preschool; Chromosomes, Human, Pair 9; DNA Mutational Analysis; DNA-Binding Proteins; Exons; Female; Genes, Recessive; Humans; Hyperlipoproteinemia Type II; Hypoalbuminemia; Infant; Lod Score; Male; Muscle Weakness; Muscle, Skeletal; Mutation, Missense; Nuclear Proteins; Phenotype; Point Mutation; Spinocerebellar Degenerations; Ubiquinone