Late-Onset Acid Maltase Deficiency: Detection of Patients and Heterozygotes by Urinary Enzyme Assay

Mark Mehler, Salvatore DiMauro

Research output: Contribution to journalArticle

20 Scopus citations

Abstract

Daily urinary excretion of acid maltase (12.78 ± 2.10 units/24 hr/mg of creatinine, in 11 normal adults) was significantly decreased in ten patients with late-onset acid maltase deficiency (1.33 ± O.16 units/24 hr; P <.001) and 11 heterozygotes (3.27 ± 0.62 units/24 hr; P <.001). Maximal inhibition of urinary acid maltase activity by antibodies against human placental enzyme was 53% in controls, 30% in heterozygotes, and virtually absent in patients. Investigation of pH curves and enzyme inhibition by antibodies confirmed the presence in the kidney of an immunologically distinct “extra” maltase enzyme active at acid pH. Whether acid maltase in normal urine originates in the kidney or cells of the lower urinary tract, the enzyme defect seems to be expressed in these cells in late-onset acid maltase deficiency.

Original languageEnglish (US)
Pages (from-to)692-695
Number of pages4
JournalArchives of Neurology
Volume33
Issue number10
DOIs
StatePublished - Oct 1976
Externally publishedYes

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology

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