The liver in congenital disorders of glycosylation: Ultrastructural features

Theodore C. Iancu; Muhammad Mahajnah; Irena Manov; Sigal Cherurg; Carlos Knopf; Hanna Mandel

doi:10.1080/01913120701348286

The liver in congenital disorders of glycosylation: Ultrastructural features

Theodore C. Iancu, Muhammad Mahajnah, Irena Manov, Sigal Cherurg, Carlos Knopf, Hanna Mandel

Research output: Contribution to journal › Article › peer-review

Abstract

A new group of genetic diseases characterized by defective glycoprotein biosynthesis was recently described. Transferrin isoelectric focusing enabled identification of several types of patients with congenital disorders of glycosylation (CDG). The authors report on the liver involvement in two siblings with CDG type Ix presenting with failure to thrive and hypertransaminasemia who developed cardiomyopathy. In the initially affected infant, liver biopsy at 13 months of age showed increased periportal cellularity, steatosis, and mild fibrosis. Ultrastructurally, the hepatocytes displayed numerous myelinosomes, mostly with a pericanalicular polarization. No myelinosomes were seen in the bile canaliculi, Kupffer cells, and sinusoidal lining cells. Focal large droplet steatosis was also noticed. These ultrastructural findings represent another diagnostic element in this heterogenic group of conditions. Electron microscopy can contribute to the elucidation of hypertransaminasemia and differentiate some types of CDG from other lysosomal diseases.

Original language	English
Pages (from-to)	189-197
Number of pages	9
Journal	Ultrastructural Pathology
Volume	31
Issue number	3
DOIs	https://doi.org/10.1080/01913120701348286
State	Published - Jun 2007
Externally published	Yes

Bibliographical note

Funding Information:
The authors thank the Dan David Foundation, the Milman Fund for Pediatric Research, and the Euroglycanet Consortium. This work was supported in part by the European Commission FP6 (contract No. LSHM-CT20050512131). We thank R. Wevers from the Laboratory of Pediatrics and Neurology, University Medical Center, Nijemgen, the Netherlands, and J. Jaeken, the Center for Metabolic Diseases, Universitair Ziekenhuis Gasthuisberg, Leuven, Belgium, for their assistance in the metabolic studies.

Keywords

Cardiomyopathy
Congenital disorders of glycosylation
Electron microscopy
Failure to thrive
Hypertransaminasemia
Lysosomal storage disease
Lysosomes
Myelinosomes

ASJC Scopus subject areas

Structural Biology
Pathology and Forensic Medicine

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10.1080/01913120701348286

Cite this

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title = "The liver in congenital disorders of glycosylation: Ultrastructural features",

abstract = "A new group of genetic diseases characterized by defective glycoprotein biosynthesis was recently described. Transferrin isoelectric focusing enabled identification of several types of patients with congenital disorders of glycosylation (CDG). The authors report on the liver involvement in two siblings with CDG type Ix presenting with failure to thrive and hypertransaminasemia who developed cardiomyopathy. In the initially affected infant, liver biopsy at 13 months of age showed increased periportal cellularity, steatosis, and mild fibrosis. Ultrastructurally, the hepatocytes displayed numerous myelinosomes, mostly with a pericanalicular polarization. No myelinosomes were seen in the bile canaliculi, Kupffer cells, and sinusoidal lining cells. Focal large droplet steatosis was also noticed. These ultrastructural findings represent another diagnostic element in this heterogenic group of conditions. Electron microscopy can contribute to the elucidation of hypertransaminasemia and differentiate some types of CDG from other lysosomal diseases.",

keywords = "Cardiomyopathy, Congenital disorders of glycosylation, Electron microscopy, Failure to thrive, Hypertransaminasemia, Lysosomal storage disease, Lysosomes, Myelinosomes",

author = "Iancu, {Theodore C.} and Muhammad Mahajnah and Irena Manov and Sigal Cherurg and Carlos Knopf and Hanna Mandel",

note = "Funding Information: The authors thank the Dan David Foundation, the Milman Fund for Pediatric Research, and the Euroglycanet Consortium. This work was supported in part by the European Commission FP6 (contract No. LSHM-CT20050512131). We thank R. Wevers from the Laboratory of Pediatrics and Neurology, University Medical Center, Nijemgen, the Netherlands, and J. Jaeken, the Center for Metabolic Diseases, Universitair Ziekenhuis Gasthuisberg, Leuven, Belgium, for their assistance in the metabolic studies.",

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AU - Knopf, Carlos

AU - Mandel, Hanna

N1 - Funding Information: The authors thank the Dan David Foundation, the Milman Fund for Pediatric Research, and the Euroglycanet Consortium. This work was supported in part by the European Commission FP6 (contract No. LSHM-CT20050512131). We thank R. Wevers from the Laboratory of Pediatrics and Neurology, University Medical Center, Nijemgen, the Netherlands, and J. Jaeken, the Center for Metabolic Diseases, Universitair Ziekenhuis Gasthuisberg, Leuven, Belgium, for their assistance in the metabolic studies.

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N2 - A new group of genetic diseases characterized by defective glycoprotein biosynthesis was recently described. Transferrin isoelectric focusing enabled identification of several types of patients with congenital disorders of glycosylation (CDG). The authors report on the liver involvement in two siblings with CDG type Ix presenting with failure to thrive and hypertransaminasemia who developed cardiomyopathy. In the initially affected infant, liver biopsy at 13 months of age showed increased periportal cellularity, steatosis, and mild fibrosis. Ultrastructurally, the hepatocytes displayed numerous myelinosomes, mostly with a pericanalicular polarization. No myelinosomes were seen in the bile canaliculi, Kupffer cells, and sinusoidal lining cells. Focal large droplet steatosis was also noticed. These ultrastructural findings represent another diagnostic element in this heterogenic group of conditions. Electron microscopy can contribute to the elucidation of hypertransaminasemia and differentiate some types of CDG from other lysosomal diseases.

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The liver in congenital disorders of glycosylation: Ultrastructural features

Abstract

Bibliographical note

Keywords

ASJC Scopus subject areas

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