Glycogen storage disease type II (Pompe disease) in children
The paper gives the data available in the literature, which reflect the manifestations, diagnosis, and current treatments of the rare (orphan) inherited disease glycogen storage disease type II or Pomp disease in children, as well as its classification. The infant form is shown to be most severe, re...
| Main Authors: | , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | Russian |
| Published: |
Ltd. “The National Academy of Pediatric Science and Innovation”
2016-03-01
|
| Series: | Rossijskij Vestnik Perinatologii i Pediatrii |
| Subjects: | |
| Online Access: | https://www.ped-perinatology.ru/jour/article/view/58 |
| _version_ | 1797875399288422400 |
|---|---|
| author | A. N. Semyachkina V. S. Sukhorukov T. M. Bukina M. I. Yablonskaya E. S. Merkuryeva M. N. Kharabadze E. A. Proskurina E. Yu. Zakharova A. V. Brydun P. A. Shatalov P. V. Novikov |
| author_facet | A. N. Semyachkina V. S. Sukhorukov T. M. Bukina M. I. Yablonskaya E. S. Merkuryeva M. N. Kharabadze E. A. Proskurina E. Yu. Zakharova A. V. Brydun P. A. Shatalov P. V. Novikov |
| author_sort | A. N. Semyachkina |
| collection | DOAJ |
| description | The paper gives the data available in the literature, which reflect the manifestations, diagnosis, and current treatments of the rare (orphan) inherited disease glycogen storage disease type II or Pomp disease in children, as well as its classification. The infant form is shown to be most severe, resulting in death from cardiovascular or pulmonary failure generally within the first year of a child’s life. Emphasis is laid on major difficulties in the differential and true diagnosis of this severe disease. Much attention is given to the new pathogenetic treatment — genetically engineered enzyme replacement drug Myozyme®. The authors describe their clinical case of a child with the juvenile form of glycogen storage disease type II (late-onset Pompe disease). Particular emphasis is laid on the clinical symptoms of the disease and its diagnostic methods, among which the morphological analysis of a muscle biopsy specimen by light and electron microscopies, and enzyme and DNA diagnoses are of most importance. The proband was found to have significant lysosomal glycogen accumulation in the muscle biopsy specimen, reduced lymphocyte acid α-1,4-glucosidase activity to 4,2 nM/mg/h (normal value, 13,0—53,6 nM/mg/h), described in the HGMD missense mutation database from 1000 G>A p.Gly334er of the GAA in homozygous state, which verified the diagnosis of Pompe disease. |
| first_indexed | 2024-04-10T01:45:55Z |
| format | Article |
| id | doaj.art-b8ec9b9bf4c147cd9ad6cbc1a787c7a5 |
| institution | Directory Open Access Journal |
| issn | 1027-4065 2500-2228 |
| language | Russian |
| last_indexed | 2024-04-10T01:45:55Z |
| publishDate | 2016-03-01 |
| publisher | Ltd. “The National Academy of Pediatric Science and Innovation” |
| record_format | Article |
| series | Rossijskij Vestnik Perinatologii i Pediatrii |
| spelling | doaj.art-b8ec9b9bf4c147cd9ad6cbc1a787c7a52023-03-13T09:12:39ZrusLtd. “The National Academy of Pediatric Science and Innovation”Rossijskij Vestnik Perinatologii i Pediatrii1027-40652500-22282016-03-01594485551Glycogen storage disease type II (Pompe disease) in childrenA. N. Semyachkina0V. S. Sukhorukov1T. M. Bukina2M. I. Yablonskaya3E. S. Merkuryeva4M. N. Kharabadze5E. A. Proskurina6E. Yu. Zakharova7A. V. Brydun8P. A. Shatalov9P. V. Novikov10Научно-исследовательский клинический институт педиатрииНаучно-исследовательский клинический институт педиатрииМедико-генетический научный центр РАМН, МоскваНаучно-исследовательский клинический институт педиатрииНаучно-исследовательский клинический институт педиатрииНаучно-исследовательский клинический институт педиатрииМедико-генетический научный центр РАМН, МоскваМедико-генетический научный центр РАМН, МоскваНаучно-исследовательский клинический институт педиатрииНаучно-исследовательский клинический институт педиатрииНаучно-исследовательский клинический институт педиатрииThe paper gives the data available in the literature, which reflect the manifestations, diagnosis, and current treatments of the rare (orphan) inherited disease glycogen storage disease type II or Pomp disease in children, as well as its classification. The infant form is shown to be most severe, resulting in death from cardiovascular or pulmonary failure generally within the first year of a child’s life. Emphasis is laid on major difficulties in the differential and true diagnosis of this severe disease. Much attention is given to the new pathogenetic treatment — genetically engineered enzyme replacement drug Myozyme®. The authors describe their clinical case of a child with the juvenile form of glycogen storage disease type II (late-onset Pompe disease). Particular emphasis is laid on the clinical symptoms of the disease and its diagnostic methods, among which the morphological analysis of a muscle biopsy specimen by light and electron microscopies, and enzyme and DNA diagnoses are of most importance. The proband was found to have significant lysosomal glycogen accumulation in the muscle biopsy specimen, reduced lymphocyte acid α-1,4-glucosidase activity to 4,2 nM/mg/h (normal value, 13,0—53,6 nM/mg/h), described in the HGMD missense mutation database from 1000 G>A p.Gly334er of the GAA in homozygous state, which verified the diagnosis of Pompe disease.https://www.ped-perinatology.ru/jour/article/view/58детиболезнь помпесимптоматикаэнзимо- и днк-диагностикаген gaaлечениепрофилактика |
| spellingShingle | A. N. Semyachkina V. S. Sukhorukov T. M. Bukina M. I. Yablonskaya E. S. Merkuryeva M. N. Kharabadze E. A. Proskurina E. Yu. Zakharova A. V. Brydun P. A. Shatalov P. V. Novikov Glycogen storage disease type II (Pompe disease) in children Rossijskij Vestnik Perinatologii i Pediatrii дети болезнь помпе симптоматика энзимо- и днк-диагностика ген gaa лечение профилактика |
| title | Glycogen storage disease type II (Pompe disease) in children |
| title_full | Glycogen storage disease type II (Pompe disease) in children |
| title_fullStr | Glycogen storage disease type II (Pompe disease) in children |
| title_full_unstemmed | Glycogen storage disease type II (Pompe disease) in children |
| title_short | Glycogen storage disease type II (Pompe disease) in children |
| title_sort | glycogen storage disease type ii pompe disease in children |
| topic | дети болезнь помпе симптоматика энзимо- и днк-диагностика ген gaa лечение профилактика |
| url | https://www.ped-perinatology.ru/jour/article/view/58 |
| work_keys_str_mv | AT ansemyachkina glycogenstoragediseasetypeiipompediseaseinchildren AT vssukhorukov glycogenstoragediseasetypeiipompediseaseinchildren AT tmbukina glycogenstoragediseasetypeiipompediseaseinchildren AT miyablonskaya glycogenstoragediseasetypeiipompediseaseinchildren AT esmerkuryeva glycogenstoragediseasetypeiipompediseaseinchildren AT mnkharabadze glycogenstoragediseasetypeiipompediseaseinchildren AT eaproskurina glycogenstoragediseasetypeiipompediseaseinchildren AT eyuzakharova glycogenstoragediseasetypeiipompediseaseinchildren AT avbrydun glycogenstoragediseasetypeiipompediseaseinchildren AT pashatalov glycogenstoragediseasetypeiipompediseaseinchildren AT pvnovikov glycogenstoragediseasetypeiipompediseaseinchildren |