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NEUROLOGY 2004;63:1053-1058
© 2004 American Academy of Neurology

Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)

C. Bruno, MD, O. P. van Diggelen, PhD, D. Cassandrini, PhD, M. Gimpelev, PhD, B. Giuffrè, MD, M. A. Donati, MD, P. Introvini, MD, A. Alegria, MD, S. Assereto, BS, L. Morandi, MD, M. Mora, PhD, E. Tonoli, MS, S. Mascelli, BS, M. Traverso, BS, E. Pasquini, MD, M. Bado, MD, L. Vilarinho, PhD, G. van Noort, PhD, F. Mosca, MD, S. DiMauro, MD, F. Zara, PhD and C. Minetti, MD

From the Neuromuscular Disease Unit (Drs. Bruno, Cassandrini, Bado, Zara, and Minetti, S. Assereto, E. Tonoli, S. Mascelli, and M. Traverso), Department of Pediatrics, University of Genova, and Department of Neuroscience and Rehabilitation, Giannina Gaslini Institute, Genova, Department of Neonatology (Drs. Giuffrè, Introvini, and Mosca), I.C.P., University of Milan, Department of Pediatrics (Drs. Donati and Pasquini), University of Florence, and C. Besta Neurological Institute (Drs. Morandi and Mora), Milan, Italy; Department of Clinical Genetics (Dr. van Diggelen), Erasmus Medical Center, Rotterdam, and Laboratory of Pathology Oost Nederland (Dr. van Noort), Enschede, the Netherlands; Departments of Biochemistry and Molecular Biophysics (Dr. Gimpelev) and Neurology (Dr. DiMauro), Columbia University College of Physicians and Surgeons, New York, NY; and Instituto de Genetica Medica (Drs. Alegria and Vilarinho), Porto, Portugal.

Address correspondence and reprint requests to Dr. C. Bruno, Neuromuscular Disease Unit, Department of Pediatrics, University of Genova, Istituto Giannina Gaslini, Largo G. Gaslini 5, I-16147 Genova, Italy; e-mail: claudiobruno{at}ospedale-gaslini.ge.it

Background: Glycogen storage disease type IV (GSD-IV) is a clinically heterogeneous autosomal recessive disorder due to glycogen branching enzyme (GBE) deficiency and resulting in the accumulation of an amylopectin-like polysaccharide. The typical presentation is liver disease of childhood, progressing to lethal cirrhosis. The neuromuscular form of GSD-IV varies in onset (perinatal, congenital, juvenile, or adult) and severity.

Objective: To identify the molecular bases of different neuromuscular forms of GSD-IV and to establish possible genotype/phenotype correlations.

Methods: Eight patients with GBE deficiency had different neuromuscular presentations: three had fetal akinesia deformation sequence (FADS), three had congenital myopathy, one had juvenile myopathy, and one had combined myopathic and hepatic features. In all patients, the promoter and the entire coding region of the GBE gene at the RNA and genomic level were sequenced.

Results: Nine novel mutations were identified, including nonsense, missense, deletion, insertion, and splice-junction mutations. The three cases with FADS were homozygous, whereas all other cases were compound heterozygotes.

Conclusions: This study expands the spectrum of mutations in the GBE gene and confirms that the neuromuscular presentation of GSD-IV is clinically and genetically heterogeneous.

Received February 24, 2004. Accepted in final form May 14, 2004.




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G. P. Raju, H.-C. Li, D. S. Bali, Y.-T. Chen, D. K. Urion, H. G. W. Lidov, and P. B. Kang
A Case of Congenital Glycogen Storage Disease Type IV With a Novel GBE1 Mutation
J Child Neurol, March 1, 2008; 23(3): 349 - 352.
[Abstract] [PDF]


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