A juvenile variant of glycogenosis IV (Andersen disease).
An unusual patient with Andersen disease (glycogenosis type IV) is presented, with only relatively mild clinical symptoms at the age of 8 years. The patient has a profound deficiency of glycogen-branching enzyme.
Guerra
A S
AS
van Diggelen
O P
OP
Carneiro
F
F
Tsou
R M
RM
Simoes
S
S
Santos
N T
NT
D015061:1,4-alpha-Glucan Branching Enzyme / Q000172:deficiency; D002648:Child; D005260:Female; D006003:Glycogen / Q000378:metabolism; D006008:Glycogen Storage Disease / Q000378:metabolism*; D006011:Glycogen Storage Disease Type IV / Q000378:metabolism* / Q000473:pathology; D006801:Humans; D008099:Liver / Q000201:enzymology / Q000473:pathology
D006003:Glycogen; D015061:1,4-alpha-Glucan Branching Enzyme