| Yazarlar |
| Özet |
| DiscussionThe present patient was found to be deficient in GDE activity and homozygous for a novel 1 bp deletion in AGL. This mutation is predicted to cause premature termination at codon 834 due to frame shift, resulting in an inactive enzyme owing to the loss of an important domain for glycogen binding at the carboxyl terminal. To date,> 50 different mutations have been reported in AGL, and the spectrum of AGL mutations in GSD IIIa varies among ethnic groups. 8 Specific mutations are prevalent in subjects of North African Jewish decent and in an isolated area such as the Faroe Islands. In contrast, genetic heterogeneity has been shown in other ethnic groups, such as Japanese subjects. 6 As for AGL mutations in Turkish patients, two others have already been reported7 and in the present study we report a third. A further genetic survey is under way at Okinaka Memorial Institute for Medical Research to explore AGL mutations in Turkish GSD III patients.Clinical indications for differential diagnosis of the two hepatic GSD are as follows: in GSD IIIa,(i) higher concentrations of liver enzymes and glucose;(ii) no elevated biotinidase activity; and (iii) splenomegaly. CPK may be a useful marker for diagnosis of GSD III when elevated; the patient's level was, however, normal at 31/2 years of age. As the patient grew older,(iv) elevated CPK levels and cardiomyopathy become prominent. Biotinidase activity has been shown to be higher in most GSD Ia patients. 9 Recently, Paesold-Burda et al. reported that sensitivity of increased biotinidase activity was 100% for GSD Ia patients and 62% for GSD III patients. 10 Splenomegaly was not observed |
| Anahtar Kelimeler |
| AGL | Deletion | Glycogen debranching enzyme | Glycogen storage disease type IIIa | Turkey |
| Makale Türü | Özgün Makale |
| Makale Alt Türü | SSCI, AHCI, SCI, SCI-Exp dergilerinde yayımlanan tam makale |
| Dergi Adı | Pediatrics International |
| Dergi ISSN | 1328-8067 |
| Dergi Tarandığı Indeksler | |
| Dergi Grubu | Q4 |
| Makale Dili | İngilizce |
| Basım Tarihi | 02-2010 |
| Cilt No | 52 |
| Sayı | 1 |
| Sayfalar | 145 / 147 |
| Doi Numarası | 10.1111/j.1442-200x.2009.02943.x |
| Atıf Sayıları | |
| SCOPUS | 4 |
| Google Scholar | 6 |
