Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency : clinical, biochemical, and genetic features of adult-onset cases

Creates awareness of adult-onset carnitine palmitoyltransferase II (CPT II) deficiency by describing the clinical, biochemical, and genetic features of three NZ patients with this disorder. Reviews case notes, creatine kinase (CK) values, CPT II assay results, genetic mutation analyses, and the literature. Presents 3 cases diagnosed between 1989 and 1999. Source: National Library of New Zealand Te Puna Matauranga o Aotearoa, licensed by the Department of Internal Affairs for re-use under the Creative Commons Attribution 3.0 New Zealand Licence.