Abstract
We describe a 15-year-old boy and his 19-year-old sister with progressive dilated cardiomyopathy and mild non-progressive proximal lower limb myopathy, secondary to the accumulation of amylopectin-like fibrillar glycogen, (polyglucosan) bodies, in heart and skeletal muscle. Evidence of idiopathic amylopectinosis or polysaccharidosis was demonstrated in heart and skeletal muscle tissue by histology, electron microscopy, biochemical, and genetic analysis. In both siblings the heart muscle stored PAS-positive, proteinase-k resistant and partly diastase resistant granulo-filamentous material, simulating polyglucosan bodies. Glycogen branching enzyme activity, and phosphofructokinase enzyme activity, measured in skeletal muscle tissue and explanted heart tissue were all within the normal limits, however glycogen content was elevated. Furthermore, GBE1, PRKAG2, desmin, αβ-crystallin, ZASP, myotilin, and LAMP-2 gene sequencing revealed no mutation, excluding e.g. glycogen storage disease type 4 and desmin-related myofibrillar cardiomyopathies. In both patients the diagnosis of an idiopathic polysaccharidosis with progressive dilated cardiomyopathy was made, requiring heart transplantation at age 13 and 14, respectively. Both patients belong to an autosomal recessive group of biochemically and genetically unclassified severe vacuolar glycogen storage disease of the heart and skeletal muscle. Up to now unidentified glycogen synthesis or glycogen degradation pathways are supposed to contribute to this idiopathic glycogen storage disease.
| Original language | English |
|---|---|
| Pages (from-to) | 52-58 |
| Number of pages | 7 |
| Journal | Molecular Genetics and Metabolism |
| Volume | 95 |
| Issue number | 1-2 |
| DOIs | |
| Publication status | Published - Sep 2008 |
Fingerprint
Keywords
- Cardiomyopathy
- Glycogenosis type 4
- Heart transplantation
- Idiopathic polysaccharide storage disease
- Polyglucosan body
ASJC Scopus subject areas
- Biochemistry
- Genetics
- Endocrinology, Diabetes and Metabolism
Cite this
Unclassified polysaccharidosis of the heart and skeletal muscle in siblings. / Schoser, Benedikt; Bruno, Claudio; Schneider, Hans Christian; Shin, Yoon S.; Podskarbi, Teodor; Goldfarb, Lev; Müller-Felber, Wolfgang; Müller-Höcker, Josef.
In: Molecular Genetics and Metabolism, Vol. 95, No. 1-2, 09.2008, p. 52-58.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Unclassified polysaccharidosis of the heart and skeletal muscle in siblings
AU - Schoser, Benedikt
AU - Bruno, Claudio
AU - Schneider, Hans Christian
AU - Shin, Yoon S.
AU - Podskarbi, Teodor
AU - Goldfarb, Lev
AU - Müller-Felber, Wolfgang
AU - Müller-Höcker, Josef
PY - 2008/9
Y1 - 2008/9
N2 - We describe a 15-year-old boy and his 19-year-old sister with progressive dilated cardiomyopathy and mild non-progressive proximal lower limb myopathy, secondary to the accumulation of amylopectin-like fibrillar glycogen, (polyglucosan) bodies, in heart and skeletal muscle. Evidence of idiopathic amylopectinosis or polysaccharidosis was demonstrated in heart and skeletal muscle tissue by histology, electron microscopy, biochemical, and genetic analysis. In both siblings the heart muscle stored PAS-positive, proteinase-k resistant and partly diastase resistant granulo-filamentous material, simulating polyglucosan bodies. Glycogen branching enzyme activity, and phosphofructokinase enzyme activity, measured in skeletal muscle tissue and explanted heart tissue were all within the normal limits, however glycogen content was elevated. Furthermore, GBE1, PRKAG2, desmin, αβ-crystallin, ZASP, myotilin, and LAMP-2 gene sequencing revealed no mutation, excluding e.g. glycogen storage disease type 4 and desmin-related myofibrillar cardiomyopathies. In both patients the diagnosis of an idiopathic polysaccharidosis with progressive dilated cardiomyopathy was made, requiring heart transplantation at age 13 and 14, respectively. Both patients belong to an autosomal recessive group of biochemically and genetically unclassified severe vacuolar glycogen storage disease of the heart and skeletal muscle. Up to now unidentified glycogen synthesis or glycogen degradation pathways are supposed to contribute to this idiopathic glycogen storage disease.
AB - We describe a 15-year-old boy and his 19-year-old sister with progressive dilated cardiomyopathy and mild non-progressive proximal lower limb myopathy, secondary to the accumulation of amylopectin-like fibrillar glycogen, (polyglucosan) bodies, in heart and skeletal muscle. Evidence of idiopathic amylopectinosis or polysaccharidosis was demonstrated in heart and skeletal muscle tissue by histology, electron microscopy, biochemical, and genetic analysis. In both siblings the heart muscle stored PAS-positive, proteinase-k resistant and partly diastase resistant granulo-filamentous material, simulating polyglucosan bodies. Glycogen branching enzyme activity, and phosphofructokinase enzyme activity, measured in skeletal muscle tissue and explanted heart tissue were all within the normal limits, however glycogen content was elevated. Furthermore, GBE1, PRKAG2, desmin, αβ-crystallin, ZASP, myotilin, and LAMP-2 gene sequencing revealed no mutation, excluding e.g. glycogen storage disease type 4 and desmin-related myofibrillar cardiomyopathies. In both patients the diagnosis of an idiopathic polysaccharidosis with progressive dilated cardiomyopathy was made, requiring heart transplantation at age 13 and 14, respectively. Both patients belong to an autosomal recessive group of biochemically and genetically unclassified severe vacuolar glycogen storage disease of the heart and skeletal muscle. Up to now unidentified glycogen synthesis or glycogen degradation pathways are supposed to contribute to this idiopathic glycogen storage disease.
KW - Cardiomyopathy
KW - Glycogenosis type 4
KW - Heart transplantation
KW - Idiopathic polysaccharide storage disease
KW - Polyglucosan body
UR - http://www.scopus.com/inward/record.url?scp=51649107501&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=51649107501&partnerID=8YFLogxK
U2 - 10.1016/j.ymgme.2008.07.005
DO - 10.1016/j.ymgme.2008.07.005
M3 - Article
C2 - 18691923
AN - SCOPUS:51649107501
VL - 95
SP - 52
EP - 58
JO - Molecular Genetics and Metabolism
JF - Molecular Genetics and Metabolism
SN - 1096-7192
IS - 1-2
ER -