Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia
(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.
(Less)
- author
- Sun, Liangwu ; Eklund, Erik A LU ; Chung, Wendy K ; Wang, Chao LU ; Cohen, Jason and Freeze, Hudson H
- publishing date
- 2005-07
- 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
-
- pmid:15840742
- scopus:23044496263
- 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
- 2024-10-06 06:25:40
@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>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}}, }