title: The Outcome of Infantile Onset Pompe Disease in South of Iran.
abstract: BACKGROUND
  Infantile Onset Pompe Disease (IOPD) is a rare autosomal recessive neuromuscular disorder. It is associated with cardiomegaly, hypotonia, paresis, and death in the first year of life. Since 2006, following the use of Alglucosidase alfa as Enzyme Replacement Therapy (ERT), the patients' survival is improved to a noticeable extent.
  
  
  OBJECTIVE
  The purpose of this study is to examine the outcome of IOPD patients in South of Iran and the degree of responsiveness to ERT.
  
  
  METHODS
  All patients who were diagnosed with IOPD on the bases of clinical symptoms, and enzyme assay on dried blood spot, were included in the study; and were followed up regarding cardiac function, locomotor activity, and cognition.
  
  
  RESULTS
  Six patients with IOPD were identified. All these six patients suffered from Hypertrophic Cardiomyopathy (HCM). Four (67%) of them also had generalized hypotonia. Three patients expired during the first weeks due to severe respiratory infection. One of them also got involved with Acute Cardiopulmonary Failure while receiving the fifth dose of ERT; and expired. However, the remaining two patients had a significant improvement after the maximum of 117 weeks of following up both cardiac and locomotor findings. These two patients were the same patients who showed cardiac symptoms from the beginning but did not have generalized hypotonia.
  
  
  CONCLUSIONS
  Although ERT has a significant effect on enhancing the survival of IOPD patients, it should be associated with meticulous heart-respiratory cares during the first months of treatment and preventing infection especially nosocomial infections.
authors: Pediatric Department, School of Medicine, Shiraz University of Medical Sciences, Shiraz, IR Iran.
authors: Hossein
authors: H
authors: Moravej
authors: Pediatric Department, School of Medicine, Shiraz University of Medical Sciences, Shiraz, IR Iran.
authors: Zohre
authors: Z
authors: Karamizadeh
authors: Pediatric Department, School of Medicine, Shiraz University of Medical Sciences, Shiraz, IR Iran.
authors: Maryam
authors: M
authors: Paran
keywords: Alpha-Glucosidase; ERT; GAA Protein; Glycogen Storage Disease Type II; Inborn Error of Metabolism