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)
Adult polyglucosan body disease (APBD) is a metabolic disorder usually caused by
glycogen branching enzyme
(
GBE
) deficiency. APBD associates progressive walking difficulties, bladder dysfunction and, in about 50% of the cases, cognitive decline. APBD is characterized by a recognizable
leukodystrophy
on brain MRI. We report here a novel presentation of this disease in a 35-year old woman who presented with an acute deterioration followed by an unexpected recovery. Enzymatic analysis displayed decreased
GBE
activity in leukocytes. Molecular analyses revealed that only one mutated allele was expressed, bearing a p.Arg515His mutation. This is the first observation reporting acute and reversible neurological symptoms in APBD. These findings emphasize the importance of searching
GBE
deficiency in patients presenting with a
leukodystrophy
and acute neurological symptoms mimicking a stroke, in the absence of cardiovascular risk factors.
...
PMID:Acute but transient neurological deterioration revealing adult polyglucosan body disease. 2314 12
