GLYCOGEN STORAGE DISEASE TYPE II. ADULT ONSET

Question 1

What is  GLYCOGEN STORAGE DISEASE TYPE II. ADULT ONSET?

Accepted Answer

rare (1:100000 )
autosomal recessive
mutation in the GAA gene
1) infantile onset: cardiomegaly, progressive weakness, macroglossia
2) juvenile onset: (cardiac involvement), slower progression 3) adult onset: slowly progressive myopathy

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

GSD [Glykogenspeicherkrankheit] Typ 2; Glykogenose durch Saure-Maltase-Mangel, spät beginnende Form

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 232300

Question 4

Which enzymes are involved?

Accepted Answer

Lysosomal alpha-glucosidase

Disease	GLYCOGEN STORAGE DISEASE TYPE II. ADULT ONSET
Synonym	GSD2; GLYCOGEN STORAGE DISEASE II
OMIM	232300 OMIM = Online Mendelian Inheritance of Men
Orphanet	420429
Protein (UniProt)	Lysosomal alpha-glucosidase
ExPASy	3.2.1.3
Gene locus	17q25.3
ICD	E74.0
Summary	rare (1:100000 ) autosomal recessive mutation in the GAA gene 1) infantile onset: cardiomegaly, progressive weakness, macroglossia 2) juvenile onset: (cardiac involvement), slower progression 3) adult onset: slowly progressive myopathy
Laboratory findings	alpha-1,4-Glucosidase dec (muscle) alpha-Glucosidase dec (fibroblasts) alpha-Glucosidase dec (muscle)
Symptoms	dyspnea fatigue, severe or unusual headache (severe, recurrent or occipital, migraine) onset, adulthood progressive muscle defect respiratory insufficiency