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Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia

Sun, Liangwu ; Eklund, Erik A LU ; Chung, Wendy K ; Wang, Chao LU ; Cohen, Jason and Freeze, Hudson H (2005) In The Journal of clinical endocrinology and metabolism 90(7). p.5-4371
Abstract

CONTEXT: Inborn errors in protein glycosylation, such as the congenital disorders of glycosylation (CDGs), generate multifaceted syndromes that impair many organ systems. We here report the diagnosis of the third known patient with CDG-Id.

RESULTS: The patient's phenotype was extremely severe, and she succumbed at 19 d of age. Leading features included hyperinsulinemic hypoglycemia, and autopsy revealed islet cell hyperplasia with increased beta-cell mass. Other features were a Dandy-Walker malformation, facial dysmorphisms, and profound hypotonia. The patient carried a novel homozygous point mutation (512G>A) in the hALG3 gene, which encodes a mannosyltransferase. Lentiviral complementation with wild-type hALG3 corrects the... (More)

CONTEXT: Inborn errors in protein glycosylation, such as the congenital disorders of glycosylation (CDGs), generate multifaceted syndromes that impair many organ systems. We here report the diagnosis of the third known patient with CDG-Id.

RESULTS: The patient's phenotype was extremely severe, and she succumbed at 19 d of age. Leading features included hyperinsulinemic hypoglycemia, and autopsy revealed islet cell hyperplasia with increased beta-cell mass. Other features were a Dandy-Walker malformation, facial dysmorphisms, and profound hypotonia. The patient carried a novel homozygous point mutation (512G>A) in the hALG3 gene, which encodes a mannosyltransferase. Lentiviral complementation with wild-type hALG3 corrects the biochemical defect in the patient's fibroblasts.

CONCLUSIONS: Our findings underscore the importance of proper glycosylation in several major organ systems and emphasize that CDG should be ruled out in patients with persistent hyperinsulinemic hypoglycemia of unknown etiology.

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author
; ; ; ; and
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Adult, Cells, Cultured, Female, Glycosylation, Humans, Hyperinsulinism/genetics, Hyperplasia, Hypoglycemia/genetics, Immunohistochemistry, Infant, Newborn, Islets of Langerhans/pathology, Mannosyltransferases/genetics, Metabolism, Inborn Errors/genetics, Pregnancy
in
The Journal of clinical endocrinology and metabolism
volume
90
issue
7
pages
5 - 4371
publisher
Oxford University Press
external identifiers
  • scopus:23044496263
  • pmid:15840742
ISSN
0021-972X
DOI
10.1210/jc.2005-0250
language
English
LU publication?
no
id
0dfabfe4-b66c-41db-b40d-620aa339d252
date added to LUP
2021-10-12 00:06:48
date last changed
2024-06-30 22:02:36
@article{0dfabfe4-b66c-41db-b40d-620aa339d252,
  abstract     = {{<p>CONTEXT: Inborn errors in protein glycosylation, such as the congenital disorders of glycosylation (CDGs), generate multifaceted syndromes that impair many organ systems. We here report the diagnosis of the third known patient with CDG-Id.</p><p>RESULTS: The patient's phenotype was extremely severe, and she succumbed at 19 d of age. Leading features included hyperinsulinemic hypoglycemia, and autopsy revealed islet cell hyperplasia with increased beta-cell mass. Other features were a Dandy-Walker malformation, facial dysmorphisms, and profound hypotonia. The patient carried a novel homozygous point mutation (512G&gt;A) in the hALG3 gene, which encodes a mannosyltransferase. Lentiviral complementation with wild-type hALG3 corrects the biochemical defect in the patient's fibroblasts.</p><p>CONCLUSIONS: Our findings underscore the importance of proper glycosylation in several major organ systems and emphasize that CDG should be ruled out in patients with persistent hyperinsulinemic hypoglycemia of unknown etiology.</p>}},
  author       = {{Sun, Liangwu and Eklund, Erik A and Chung, Wendy K and Wang, Chao and Cohen, Jason and Freeze, Hudson H}},
  issn         = {{0021-972X}},
  keywords     = {{Adult; Cells, Cultured; Female; Glycosylation; Humans; Hyperinsulinism/genetics; Hyperplasia; Hypoglycemia/genetics; Immunohistochemistry; Infant, Newborn; Islets of Langerhans/pathology; Mannosyltransferases/genetics; Metabolism, Inborn Errors/genetics; Pregnancy}},
  language     = {{eng}},
  number       = {{7}},
  pages        = {{5--4371}},
  publisher    = {{Oxford University Press}},
  series       = {{The Journal of clinical endocrinology and metabolism}},
  title        = {{Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia}},
  url          = {{http://dx.doi.org/10.1210/jc.2005-0250}},
  doi          = {{10.1210/jc.2005-0250}},
  volume       = {{90}},
  year         = {{2005}},
}