GLYCOGEN STORAGE DISEASE TYPE IIB. DANON DISEASE

Question 1

What is  GLYCOGEN STORAGE DISEASE TYPE IIB. DANON DISEASE?

Accepted Answer

rare
X-linked dominant
lysosome-associated protein-2 (LAMP-2) mutations

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

GSD [Glykogenspeicherkrankheit] Typ 2b; LAMP2 [Lysosomen-assoziiertes Membranprotein-2]-Mangel; Danon-Krankheit

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 300257

Question 4

Which enzymes are involved?

Accepted Answer

Lysosome-associated membrane glycoprotein 2

Disease	GLYCOGEN STORAGE DISEASE TYPE IIB. DANON DISEASE
Synonym	LYSOSOMAL GLYCOGEN STORAGE DISEASE WITHOUT ACID MALTASE DEFICIENCY; PSEUDOGLYCOGENOSIS II
OMIM	300257 OMIM = Online Mendelian Inheritance of Men
Orphanet	34587
Protein (UniProt)	Lysosome-associated membrane glycoprotein 2
Gene locus	Xq24
ICD	E74.0
Summary	rare X-linked dominant lysosome-associated protein-2 (LAMP-2) mutations
Laboratory findings	Creatine kinase inc (serum) Glycogen inc (muscle) Transaminases (ASAT/ALAT) normal/inc (serum)
Symptoms	tachykardia tachykardia, paroxysmal cardiac arrhythmia, dysrhythmia cardiomegaly cardiomyopathy cardiomyopathy, dilated cardiomyopathy, hypertrophic ECG abnormalities [-] exercise intolerance heart failure, cardiac failure hydrops fetalis hypotonia impaired visual acuity mental retardation muscle cramps muscle weakness myopathy myopia onset, adulthood onset, childhood onset, fetus onset, infancy onset, neonatal sudden death tachypnea, hyperpnea, dyspnea, hyperventilation