Carbohydrate deficient glycoprotein syndrome type Ia.
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.
Chu
Kai-Lin
KL
Department of Pediatrics and Medical Genetics, National Taiwan University Hospital, Taipei.
Chien
Yin-Hsiu
YH
Tsai
Chen-En
CE
Freeze
Hudson H
HH
Eklund
Erik
E
Hwu
Wuh-Liang
WL
D000273:Adipose Tissue / Q000002:abnormalities; D002531:Cerebellum / Q000002:abnormalities; D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis*; D002658:Developmental Disabilities / Q000209:etiology; D005183:Failure to Thrive / Q000209:etiology; D005260:Female; D006801:Humans; D007223:Infant; D009123:Muscle Hypotonia / Q000209:etiology; D009558:Nipples / Q000002:abnormalities