Diagnostic challenges for Pompe disease

An under-recognized cause of floppy baby syndrome

R. Howell, Barry Byrne, Basil T. Darras, Priya Kishnani, Marc Nicolino, Ans Van Der Ploeg

Research output: Contribution to journalArticle

42 Citations (Scopus)

Abstract

Pompe disease, a disorder caused by a deficiency in the lysosomal enzyme acid alpha glucosidase, is frequently overlooked as a cause of floppy baby syndrome. The accurate diagnosis of floppy baby syndrome requires the sequential evaluation of medical causes (e.g., hypothyroidism, sepsis, malnutrition, malabsorption, congenital heart disease), neurologic etiologies (central [cerebral] and peripheral [lower motor unit]) and anatomic characteristics of the abnormality. Cardiomegaly on chest x-ray in a patient with floppy baby syndrome should alert the pediatrician to suspect Pompe disease. Based on this finding, further work-up or referral to a specialist can be considered. Pompe disease requires immediate attention. Symptomatic intervention of this disorder should be initiated at the earliest time possible to maximize the potential benefit from therapy and to prevent irreversible organ damage. Moreover, early diagnosis is important for providing parents with realistic information about their child's prognosis, and where appropriate, professional genetic counseling. Enzyme replacement therapy (ERT) with recombinant human GAA is currently being evaluated in clinical trials; the future availability of this option makes early identification of this condition even more critical. This article presents a unified view on the optimal approach to the accurate diagnosis of Pompe disease and to its recognition as one of the possible and treatable causes of floppy baby syndrome.

Original languageEnglish
Pages (from-to)289-296
Number of pages8
JournalGenetics in Medicine
Volume8
Issue number5
DOIs
StatePublished - May 1 2006

Fingerprint

Glycogen Storage Disease Type II
Enzyme Replacement Therapy
alpha-Glucosidases
Genetic Counseling
Cardiomegaly
Hypothyroidism
Malnutrition
Nervous System
Early Diagnosis
Heart Diseases
Sepsis
Thorax
Referral and Consultation
Parents
X-Rays
Clinical Trials
Acids
Enzymes

Keywords

  • GAA deficiency
  • Hypotonia
  • Lysosomal diseases
  • Muscular abnormalities
  • Pompe disease

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Diagnostic challenges for Pompe disease : An under-recognized cause of floppy baby syndrome. / Howell, R.; Byrne, Barry; Darras, Basil T.; Kishnani, Priya; Nicolino, Marc; Van Der Ploeg, Ans.

In: Genetics in Medicine, Vol. 8, No. 5, 01.05.2006, p. 289-296.

Research output: Contribution to journalArticle

Howell, R. ; Byrne, Barry ; Darras, Basil T. ; Kishnani, Priya ; Nicolino, Marc ; Van Der Ploeg, Ans. / Diagnostic challenges for Pompe disease : An under-recognized cause of floppy baby syndrome. In: Genetics in Medicine. 2006 ; Vol. 8, No. 5. pp. 289-296.
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