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Diagnosis and management of Pompe disease

Louisa Bhengu, Alan Davidson, Paul Jacobs du Toit, Carla Els, Trevor Gerntholtz, Kenny Govendrageloo, Bertram Henderson, Lawrence Mubaiwa, Varughese Sheeba

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 α-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' affiliations

Louisa Bhengu, Department of Human Genetics, University of the Witwatersrand, Johannesburg, South Africa

Alan Davidson, Haematology/Oncology Service, Red Cross War Memorial Children’s Hospital and University of Cape Town, South Africa

Paul Jacobs du Toit, Physician in private practice, Johannesburg, South Africa

Carla Els, Paediatric pulmonologist in private practice, Johannesburg, South Africa

Trevor Gerntholtz, Adult nephrologist in private practice, Johannesburg, South Africa

Kenny Govendrageloo, Paediatric cardiologist in private practice, Johannesburg, South Africa

Bertram Henderson, Human Genetics and Clinical Unit, Department of Neurology, University of the Free State, Bloemfontein, South Africa

Lawrence Mubaiwa, Department of Neurology, University of KwaZulu-Natal, Durban, South Africa

Varughese Sheeba, Gaucher and HIV Clinics, University of the Witwatersrand, Johannesburg, South Africa

Full Text

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Keywords

Pompe Disease; Glycogen Storage Disease; Lysosomal Storage Disease

Cite this article

South African Medical Journal 2014;104(4):273-274. DOI:10.7196/SAMJ.7386

Article History

Date submitted: 2013-08-19
Date published: 2014-01-20

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