Carbohydrate deficient glycoprotein syndrome type Ia
(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
- Chu, Kai-Lin ; Chien, Yin-Hsiu ; Tsai, Chen-En ; Freeze, Hudson H ; Eklund, Erik LU and Hwu, Wuh-Liang
- publishing date
- 2004
- 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}}, }