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Summary
GLYCOGEN STORAGE DISEASE TYPE IIB. DANON DISEASE
LYSOSOMAL GLYCOGEN STORAGE DISEASE WITHOUT ACID MALTASE DEFICIENCY PSEUDOGLYCOGENOSIS II
300257
OMIM = Online Medalian Inheritance of Men
34587
Xq24
rare
X-linked dominant
lysosome-associated protein-2 (LAMP-2) mutations
symptoms
cardiac arrhythmia, dysrhythmia
cardiomegaly
cardiomyopathy
cardiomyopathy, dilated
cardiomyopathy, hypertrophic
exercise intolerance
heart 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
tachykardia, paroxysmal
tachypnea, hyperpnea, dyspnea, respiratory distress
laboratory finding
Creatine kinase 25.0090.00increasedserum
ECG abnormalities -
Glycogen increasedmuscle
Literature
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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
Vanslambrouck JM,et al.Renal imino acid and glycine transport system ontogeny and involvement in developmental iminoglycinuriaBiochem J4283397-4072010
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