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Carbohydrate deficient glycoprotein syndrome type Ia

Chu, Kai-Lin ; Chien, Yin-Hsiu ; Tsai, Chen-En ; Freeze, Hudson H ; Eklund, Erik LU and Hwu, Wuh-Liang (2004) In Journal of the Formosan Medical Association 103(9). p.721-723
Abstract

Carbohydrate deficient glycoprotein syndromes (CDG) are inherited multisystem disorders characterized by the abnormal glycosylation of a number of serum glycoproteins. CDG-Ia results from deficiency of phosphomannomutase that catalyzes the conversion of mannose-6-phosphate to mannose-1-phosphate in the cytosol. We report a case of CDG-Ia in an 11-month-old girl with developmental delay, failure to thrive, inverted nipples and abnormal fat pads. The abnormal pattern of transferrin glycosylation and phosphomannomutase activity assay confirmed the diagnosis of CDG type Ia. Unfortunately, an efficient treatment is still not available for CDG type Ia patients. This is the first report of a Taiwanese patient with this syndrome.

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author
; ; ; ; and
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Adipose Tissue/abnormalities, Cerebellum/abnormalities, Congenital Disorders of Glycosylation/diagnosis, Developmental Disabilities/etiology, Failure to Thrive/etiology, Female, Humans, Infant, Muscle Hypotonia/etiology, Nipples/abnormalities
in
Journal of the Formosan Medical Association
volume
103
issue
9
pages
721 - 723
publisher
Elsevier
external identifiers
  • scopus:7044260835
  • pmid:15361947
ISSN
0929-6646
language
English
LU publication?
no
id
74e00f23-b765-4f0c-a5e3-0ce442ba6599
date added to LUP
2021-10-12 00:08:23
date last changed
2024-01-05 18:01:53
@article{74e00f23-b765-4f0c-a5e3-0ce442ba6599,
  abstract     = {{<p>Carbohydrate deficient glycoprotein syndromes (CDG) are inherited multisystem disorders characterized by the abnormal glycosylation of a number of serum glycoproteins. CDG-Ia results from deficiency of phosphomannomutase that catalyzes the conversion of mannose-6-phosphate to mannose-1-phosphate in the cytosol. We report a case of CDG-Ia in an 11-month-old girl with developmental delay, failure to thrive, inverted nipples and abnormal fat pads. The abnormal pattern of transferrin glycosylation and phosphomannomutase activity assay confirmed the diagnosis of CDG type Ia. Unfortunately, an efficient treatment is still not available for CDG type Ia patients. This is the first report of a Taiwanese patient with this syndrome.</p>}},
  author       = {{Chu, Kai-Lin and Chien, Yin-Hsiu and Tsai, Chen-En and Freeze, Hudson H and Eklund, Erik and Hwu, Wuh-Liang}},
  issn         = {{0929-6646}},
  keywords     = {{Adipose Tissue/abnormalities; Cerebellum/abnormalities; Congenital Disorders of Glycosylation/diagnosis; Developmental Disabilities/etiology; Failure to Thrive/etiology; Female; Humans; Infant; Muscle Hypotonia/etiology; Nipples/abnormalities}},
  language     = {{eng}},
  number       = {{9}},
  pages        = {{721--723}},
  publisher    = {{Elsevier}},
  series       = {{Journal of the Formosan Medical Association}},
  title        = {{Carbohydrate deficient glycoprotein syndrome type Ia}},
  volume       = {{103}},
  year         = {{2004}},
}