PMID: 264606Feb 1, 1977Paper

Residual acid maltase activity in late-onset acid maltase deficiency

M Mehler, S DiMauro


Residual acid maltase activity was found by a sensitive fluorometric assay in muscle biopsies from 15 patients with late-onset acid maltase deficiency (mean, 6.91 percent; range, 2.4 to 12.2) but not in biopsy or autopsy muscle from three patients with the infantile form. Electrophoresis, kinetic characteristics, and subcellular fractionation indicated that the residual activity was lysosomal acid maltase and not a contaminating isozyme of neutral maltase. There was no correlation between the amount of residual acid maltase activity and the severity of the clinical picture or glycogen accumulation. The presence of acid maltase activity in muscle, liver, and, to a greater extent, leukocytes in late-onset but not infantile acid maltase deficiency and the failure of the two disease forms to occur in the same family suggest that they are genetically distinct.


May 1, 1979·Annals of Neurology·S DiMauroL Z Stern
Jan 1, 1978·Muscle & Nerve·S DiMauroC Payne
Jan 1, 1995·Muscle & Nerve. Supplement·A J ReuserA van der Ploeg
Jan 1, 1985·Journal of Neurology·F Cornelio, S Di Donato
Sep 1, 1988·Journal of Neurology·A van der PloegA J Reuser
May 1, 1988·European Journal of Pediatrics·T C IancuS Moses
Aug 1, 1978·Clinica Chimica Acta; International Journal of Clinical Chemistry·J F KosterT W Van Weerden
Feb 14, 1980·Clinica Chimica Acta; International Journal of Clinical Chemistry·S NakagawaH M Nitowsky
Dec 30, 1988·Clinica Chimica Acta; International Journal of Clinical Chemistry·G D Vladutiu, C C Kewin
Apr 1, 1981·Journal of the Neurological Sciences·S Shanske, S DiMauro
Feb 5, 2000·Neurologic Clinics·G D Vladutiu
Dec 1, 1986·Proceedings of the National Academy of Sciences of the United States of America·F MartiniukR Hirschhorn
Mar 1, 1978·Acta Neurologica Scandinavica·G PellegriniC Cerri
Nov 1, 1993·Australian Veterinary Journal·K G ReichmannE J Thistlethwaite
Sep 1, 1986·Journal of Neurology, Neurosurgery, and Psychiatry·H IsaacsT Whistler
Oct 11, 2013·Orphanet Journal of Rare Diseases·Simone SampaoloGiuseppe Di Iorio
Jan 11, 2013·Case Reports in Obstetrics and Gynecology·Jennifer WeidaM K Williams
Jan 1, 2010·Expert Opinion on Medical Diagnostics·A J ReuserDjj Halley
Oct 1, 1986·Pathology, Research and Practice·K UllrichD B von Bassewitz
Nov 27, 2010·Journal of the Neurological Sciences·Anna FidziańskaAnna Tylki-Szymańska
Oct 22, 2008·Lancet·A van der Ploeg, Arnold J J Reuser
Jan 1, 1992·Neuromuscular Disorders : NMD·P ToninN Rizzuto
Jul 22, 2004·American Journal of Medical Genetics. Part a·Murray A PotterDonald T Whelan
Feb 26, 2004·Muscle & Nerve·Charles H WhitakerMarvin Natowicz
Jan 19, 2012·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·M A KroosArnold J J Reuser
Nov 29, 1978·Biochemical and Biophysical Research Communications·J C Dreyfus, L Poenaru
Dec 1, 1986·American Journal of Medical Genetics·S DiMauroM Zeviani
May 15, 1991·Biochemical and Biophysical Research Communications·S Tzall, F Martiniuk

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