GLYCOGEN STORAGE DISEASE TYPE XIII

Question 1

What is  GLYCOGEN STORAGE DISEASE TYPE XIII?

Accepted Answer

very rare (3 cases)
autosomal recessive
mutation in the ENO3 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

GSD [Glykogenspeicherkrankheit] Typ 13; Glykogenose durch muskulären beta-Enolase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 612932

Question 4

Which enzymes are involved?

Accepted Answer

Beta-enolase

Disease	GLYCOGEN STORAGE DISEASE TYPE XIII
Synonym	GSD13; ENOLASE 3 DEFICIENCY
OMIM	612932 OMIM = Online Mendelian Inheritance of Men
Orphanet	99849
Protein (UniProt)	Beta-enolase
ExPASy	4.2.1.11
Gene locus	17p13.2
ICD	E74.0
Summary	very rare (3 cases) autosomal recessive mutation in the ENO3 gene
Laboratory findings	Beta-enolase dec (muscle) Creatine kinase inc (serum) Glycogen inc (muscle) Myoglobin inc (urine)
Symptoms	exercise intolerance exertion intolerance muscle cramps muscle weakness onset, adulthood pain, muscle rhabdomyolysis