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)
A non-Jewish patient is described who had adult polyglucosan body disease (APBD) and
glycogen branching enzyme
(
GBE
) deficiency without
GBE
mutation. A heterozygous polymorphism (Val160Ile) was found, and also discovered in 1 of 50 normal individuals. Magnetic resonance imaging demonstrated increased T2 signal in the midbrain, medullary olives, dentate nuclei, cerebellar peduncles, and internal and external capsules, with vermian atrophy. Both muscle and nerve biopsy revealed perivascular inflammatory infiltrates. These findings expand the clinical and genetic spectrum of APBD. Factors other than mutation of the expressed
GBE
gene may cause
enzyme deficiency
and varied expression and development of APBD.
...
PMID:Adult polyglucosan body disease: case description of an expanding genetic and clinical syndrome. 1475 1
