Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:2.4.1.18 (
branching enzyme
)
628
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Glycogen storage disease type IV (GSD-IV) is a rare autosomal recessive disease caused by a deficiency of
glycogen branching enzyme
(
GBE
) activity. This results in the accumulation of abnormal glycogen in the liver and other organs. We report the case of a 14-month-old female patient with typical hepatic pathologic findings of GSD-IV. The patient suffered from decreased muscle tone and progressive hepatosplenomegaly since birth. A wedge biopsy of the liver showed enlarged hepatocytes with colorless to faintly eosinophilic ground glass intracytoplasmic inclusions.
Portal
fibrosis and lobular, fibrous septa were present. Ultrastructure of the inclusions revealed non-membrane-bound fibrillar material 5 nm in maximal diameter. Enzyme study revealed a total deficiency of
GBE
activity.
...
PMID:Glycogen storage disease type IV: a case report. 1053 7
