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Clinical characteristics of patients with non-specific and non-categorized mitochondrial diseases

Authors
 Jeong Tae Kim  ;  Yun Jin Lee  ;  Young Mock Lee  ;  Hoon Chul Kang  ;  Joon Soo Lee  ;  Heung Dong Kim 
Citation
 ACTA PAEDIATRICA, Vol.98(11) : 1825-1829, 2009 
Journal Title
 ACTA PAEDIATRICA 
ISSN
 0803-5253 
Issue Date
2009
MeSH
Acidosis, Lactic/etiology ; Adolescent ; Brain/metabolism ; Brain/pathology* ; Child ; Child, Preschool ; Developmental Disabilities/etiology ; Female ; Humans ; Infant ; Magnetic Resonance Imaging ; Male ; Mitochondrial Diseases/complications* ; Mitochondrial Diseases/metabolism ; Mitochondrial Diseases/pathology ; Mitochondrial Proteins/genetics ; Mitochondrial Proteins/metabolism ; Muscles/metabolism ; Muscles/pathology* ; Retrospective Studies ; Seizures/etiology ; Young Adult
Keywords
Magnetic resonance imaging ; Mitochondria ; Neuromuscular system ; Respiratory chain complex
Abstract
AIM: Mitochondrial disease is a heterogeneous disorder entity induced by defects in mitochondrial respiratory chain complex (MRC). A significant portion of patients with MRC defect will not conform to a specific, known syndrome. We have analysed the clinical features of 108 Korean paediatric patients with non-specific and non-categorized mitochondrial disease. METHODS: We retrospectively reviewed the clinical and laboratory features of 108 paediatrics patients with non-specific and non-categorized mitochondrial diseases who showed defects in MRC activity, confirmed by spectrophotometric biochemical enzyme assay of their muscles. RESULTS: Neuromuscular involvement was noted in all patients, with developmental delay and seizure accounting for 92.6% and 77.8% of total patients respectively. Various extraneurological symptoms were observed. Most patients exhibited MRC I defect, accounting for 100 (92.6%) patients. The most common brain magnetic resonance imaging (MRI) finding was diffuse cerebral atrophy. However, in 23.1% of patients, no notable changes were visible on MRI. CONCLUSIONS: Mitochondrial respiratory chain complex I defect was the most common finding in this study. Though neuromuscular symptoms predominated, with presence of numerous extraneurological findings, we could not find any novel symptoms that might be unique to this category of mitochondrial disease. But, comparatively, more patients presented with unremarkable birth histories and normal brain MRI findings.
Full Text
http://onlinelibrary.wiley.com/doi/10.1111/j.1651-2227.2009.01428.x/abstract
DOI
10.1111/j.1651-2227.2009.01428.x
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
Yonsei Authors
Kang, Hoon Chul(강훈철) ORCID logo https://orcid.org/0000-0002-3659-8847
Kim, Heung Dong(김흥동) ORCID logo https://orcid.org/0000-0002-8031-7336
Lee, Young Mock(이영목) ORCID logo https://orcid.org/0000-0002-5838-249X
Lee, Yun Jin(이윤진)
Lee, Joon Soo(이준수) ORCID logo https://orcid.org/0000-0001-9036-9343
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/104904
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