TY - JOUR
T1 - Late-Onset Acid Maltase Deficiency
T2 - Detection of Patients and Heterozygotes by Urinary Enzyme Assay
AU - Mehler, Mark
AU - DiMauro, Salvatore
PY - 1976/10
Y1 - 1976/10
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0017085234&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0017085234&partnerID=8YFLogxK
U2 - 10.1001/archneur.1976.00500100026011
DO - 10.1001/archneur.1976.00500100026011
M3 - Article
C2 - 9923
AN - SCOPUS:0017085234
SN - 0003-9942
VL - 33
SP - 692
EP - 695
JO - Archives of Neurology
JF - Archives of Neurology
IS - 10
ER -