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Summary
GLYCOGEN STORAGE DISEASE TYPE II. ADULT ONSET
GSD2 GLYCOGEN STORAGE DISEASE II
232300
OMIM = Online Medalian Inheritance of Men
420429
17q25.3
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
symptoms
fatigue, severe or unusual
headache (severe, recurrent or occipital, migraine)
onset, adulthood
orthopnea
progressive muscle defect
respiratory insufficiency
laboratory finding
alpha-Glucosidase14.7039.50 100.00% of normalfibroblastsno data
alpha-Glucosidase2.9011.90 100.00% of normalmuscle
alpha-1,4-Glucosidase activitymuscle
Literature
Tarquinio DC,et al.Longitudinal course of epilepsy in Rett syndrome and related disordersBrain1402306-3182017
Ortega Garcia MPet al.Effective therapy with a glycine-proline ointment in a patient with recurrent ulcers from prolidase deficiencyFarm Hosp305304-3082006
Jansen EEet al.A novel, quantitative assay for homocarnosine in cerebrospinal fluid using stable-isotope dilution liquid chromatography-tandem mass spectrometryJ Chromatogr B Analyt Technol Biomed Life Sci8302196-2002006
Sjaastad Oet al.Homocarnosinosis. 2. A familial metabolic disorder associated with spastic paraplegia, progressive mental deficiency, and retinal pigmentationActa Neurol Scand534275-2901976
Lenney JFet al.Homocarnosinosis: lack of serum carnosinase is the defect probably responsible for elevated brain and CSF homocarnosineClin Chim Acta1322157-1651983
Staufner C,et al.Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic conceptsJ Inherit Metab Dis3913-162016
Akinci G,et al.Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter studyNeuromuscul Disord2410923-9302017
Maksimova N,et al.Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huet anomalyJ Med Genet478538-5482010
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
Kramarenko GGet al.Peculiarities of carnosine metabolism in a patient with pronounced homocarnosinemiaBull Exp Biol Med1324996-9992001