GLYCOGEN STORAGE DISEASE TYPE II. INFANTILE ONSET. POMPE DISEASE

Question 1

What is  GLYCOGEN STORAGE DISEASE TYPE II. INFANTILE ONSET. POMPE DISEASE?

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; Infantile 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. INFANTILE ONSET. POMPE DISEASE
Synonym	GSD2; GLYCOGEN STORAGE DISEASE II
OMIM	232300 OMIM = Online Mendelian Inheritance of Men
Orphanet	308552
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 () alpha-Glucosidase dec (muscle) alpha-Glucosidase dec (fibroblasts) Aspartate aminotransferase (ASAT, SGOT) inc (plasma) cardiac Troponin T (cTnT) normal/inc (plasma) Creatine kinase inc (plasma) Glycogen inc (tissue) Lymphocytes, vacuoles (blood) Oligosaccharides inc (urine) Transaminases (ASAT/ALAT) inc (serum)
Symptoms	cardiomegaly cardiomyopathy cardiomyopathy, hypertrophic early death ECG abnormalities [-] feeding difficulties, poor feeding hearing defect, deafness heart failure, cardiac failure hepatomegaly (large liver) hydrops fetalis hypotonia infections (severe or recurrent) macroglossia, large/protuding tongue muscle weakness myopathy onset, childhood onset, infancy onset, neonatal progressive muscle defect respiratory insufficiency