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This finding supports the previous view that IOPD is a result of truncating mutations.
(1) reported 2 unrelated Mexican cases of IOPD with the same novel homozygous frameshift mutation "c.1987delC".
Several articles have been published on response to ERT among IOPD patients.
As much as the early initiation of treatment is a good prognostic factor for ERT among patients with IOPD, some other factors, including the genetic type and the titer of anti-rh GAA antibodies, are also very important.
1 show the data obtained with 4 IOPD, 5 LOPD, and 9 pseudodeficiency/ carrier DBS.
We then extended the MS/MS study by measuring GAA enzymatic activity in DBS from 11 IOPD patients, 12 LOPD patients, and 230 cases of non-Pompe disease affected newborns carrying the following DNA changes:
We also measured GAA enzymatic activity using MS/MS on an identical set of DBS (3 IOPD and 12 normal) using both the liquid-liquid extraction method and the solid-phase extraction method (see online Supplemental Table 4).
[6] Nonstandard abbreviations: GAA, acid [alpha]-glucosidase; DBS, dried blood spots on newborns' screening cards; MS/MS, tandem mass spectrometry; IOPD, infantile-onset Pompe disease; LOPD, predicted late-onset Pompe disease; PAS, periodic acid Schiff.
The low analytic range may be the reason that the fluorometric assay is unable to differentiate between IOPD vs LOPD in blood samples (14, 15).
A total of 4 patients with IOPD were included in this study.
In turn, we hypothesize that a high analytical range assay might be useful in distinguishing the small amounts of residual GAA activity in leukocyte lysates from IOPD, LOPD, and pseudodeficiency patients.
A lysate from fibroblasts from an IOPD patient thought to be null in GAA activity because of homozygosity of a nonsense mutation (p.R854X) in the GAA gene (Coriell repository cell line GM00338) was mixed in various proportions with a lysate from normal fibroblasts of the same protein concentration to give 0%, 1%, 2%, 5%, 10%, and 50% normal fibroblast lysate.