PMID: 5497879Dec 1, 1970Paper

Acid maltase levels in muscle in heterozygous acid maltase deficiency and in non-weak and neuromuscular disease controls

Journal of Neurology, Neurosurgery, and Psychiatry
A G Engel, M R Gomez

Abstract

Acid maltase (AM) deficiency carriers can be detected by muscle enzyme assay. The assay indicates that, just as in infantile and childhood cases, adult cases of the disease are transmitted by autosomal recessive inheritance. With the maltose hydrolysis assay, in some neuromuscular diseases, muscle AM activity can be as low as in heterozygous AM deficiency. A relatively low muscle AM activity in myxoedema myopathy is confirmed. In human muscle, the K(m) of the enzyme for maltose hydrolysis is 7·2 to 9 × 10(-3)M. A modification of the enzyme assay based on this fact is recommended.

References

Oct 1, 1967·Journal of Neurology, Neurosurgery, and Psychiatry·S Di MauroC Catani
Sep 1, 1968·Brain : a Journal of Neurology·P HudgsonJ N Walton
Dec 26, 1969·Science·K HirschhornR Hirschhorn
Jun 1, 1968·The Biochemical Journal·F AuricchioV Sica
Oct 29, 1960·British Medical Journal·W H THOMSONJ N Walton

Citations

Jan 1, 1985·Journal of Neurology·F Cornelio, S Di Donato
Nov 9, 1972·The New England Journal of Medicine·C AngeliniJ L Titus
Mar 1, 1978·Acta Neurologica Scandinavica·G PellegriniC Cerri
Sep 1, 1986·Journal of Neurology, Neurosurgery, and Psychiatry·H IsaacsT Whistler
Mar 1, 1977·Annals of Neurology·G KarpatiS DiMauro
Sep 17, 2015·Orphanet Journal of Rare Diseases·Tim A KantersLeona Hakkaart
Jun 3, 2011·Orphanet Journal of Rare Diseases·Deniz GüngörMarloes L C Hagemans
Jul 1, 1975·The Journal of Pathology·P Hudgson, J J Fulthorpe
Jan 1, 1974·Archiv für Psychiatrie und Nervenkrankheiten·H W KölmelD Seiler
Jan 1, 1981·Clinical Genetics·M C LoonenJ M Tager
Jan 1, 1992·Neuromuscular Disorders : NMD·S J ValbergS DiMauro

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