CDG IIx with unusual phenotype.
Congenital disorders of glycosylation (CDG) are a group of genetic diseases characterized by defective protein glycosylation. N-glycosylation defects are divided into two groups (I and II). CDG group II (types IIa to IIe) refers to defects in the Golgi processing of protein-bound glycans. We report a patient with CDG IIx and an unusual phenotype.
Cheillan
D
D
Service de Biochimie Pédiatrique, Hôpital Debrousse, Lyon, France. david.cheillan@chu-lyon.fr
Cognat
S
S
Dorche
C
C
Jaeken
J
J
Vianey-Saban
C
C
Guffon
N
N
D000743:Anemia, Hemolytic / Q000209:etiology*; D002239:Carbohydrate Metabolism, Inborn Errors / Q000150:complications / Q000235:genetics* / Q000378:metabolism / Q000523:psychology; D002908:Chronic Disease; D003402:Creatine Kinase / Q000097:blood*; D005145:Face / Q000002:abnormalities*; D006031:Glycosylation; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype; D011507:Proteinuria / Q000209:etiology*; D011597:Psychomotor Performance
D003402:Creatine Kinase