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Summary
GLYCOGEN STORAGE DISEASE TYPE IIB WITHOUT alpha-GLUCOSIDASE DEFICIENCY
DANON DISEASE PSEUDOGLYCOGENOSIS II
300257
OMIM = Online Medalian Inheritance of Men
34587
Xq24
rare
X-linked dominant
mutation in the gene encoding lysosome-associated membrane protein-2
symptoms
cardiac arrhythmia, dysrhythmia
cardiomegaly
cardiomyopathy
cardiomyopathy, dilated
cardiomyopathy, hypertrophic
exercise intolerance
heart failure
hypotonia
impaired visual acuity
mental retardation
muscle cramps
muscle weakness
myopathy
myopia
onset, adulthood
onset, childhood
sudden death
tachykardia, paroxysmal
tachypnea, hyperpnea, dyspnea, respiratory distress
laboratory finding
Creatine kinase 25.0090.00increasedserum
ECG abnormalities -
Glycogen increasedmuscle
Literature
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Gobin Set al.Functional and structural basis of carnitine palmitoyltransferase 1A deficiencyJ Biol Chem2785050428-342003
Ezgu FSet al.Serum carnitine levels in newborns with perinatal asphyxia and relation to neurologic prognosisNutr Neurosci75351-3562004
Bonnefont JPet al.Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspectsMol Aspects Med255495-5202004
Stoler JMet al.Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutationJ Inherit Metab Dis275679-6842004
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Moser HWMoser ABMeasurement of phytanic acid levelsTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00193-2031991
Bonnefont JPet al.Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspectsMol Aspects Med255495-5202004
Mandey SHet al.Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiencyHum Mutat278796-8022006