title: Diagnosis and management of Pompe disease.
abstract: Pompe disease (PD) is an autosomal-recessively inherited neuromuscular disease that, if not diagnosed and treated early, can be fatal. It can present from early infancy into adulthood. Due to the lack of acid alpha-glucosidase, there is progressive intracellular accumulation of glycogen. The severity of the disease is determined by age of onset, organ involvement including the degree of severity of muscle involvement, as well as rate of progression. PD is classified into two groups: infantile and late-onset, each having two subgroups. The need for two tests performed by separate methods (screening and confirmatory) is outlined. It is imperative to try to reduce the time to diagnosis and to recognise the possibilities of false-positive results. A multidisciplinary team approach to treatment of affected patients is optimum with, as team leader, a physician who has experience in managing this rare disorder. In this article, we present a brief overview of the disease and provide guidelines for diagnosis and management of this condition in South Africa.
authors.forename: L
authors.initials: L
authors.lastname: Bhengu
authors.forename: A
authors.initials: A
authors.lastname: Davidson
authors.forename: P
authors.initials: P
authors.lastname: du Toit
authors.forename: C
authors.initials: C
authors.lastname: Els
authors.forename: T
authors.initials: T
authors.lastname: Gerntholtz
authors.forename: K
authors.initials: K
authors.lastname: Govendrageloo
authors.forename: B
authors.initials: B
authors.lastname: Henderson
authors.forename: L
authors.initials: L
authors.lastname: Mubaiwa
authors.forename: S
authors.initials: S
authors.lastname: Varughese
mesh_terms: D006009:Glycogen Storage Disease Type II / Q000145:classification / Q000175:diagnosis* / Q000628:therapy*; D006801:Humans; D010348:Patient Care Team; D013019:South Africa; D000520:alpha-Glucosidases / Q000235:genetics
chemical_list: C509951:GAA protein, human; D000520:alpha-Glucosidases