Abstract
Individually rare, when taken as a whole, genetic inborn errors of metabolism (IEM) account for a significant proportion of early onset encephalopathy. Prompt diagnosis is crucial to assess appropriate investigation and can sometimes warrant successful therapy. Recent improvements in technology and expansion of knowledge on the biochemical and molecular basis of these disorders allow astute child neurologists and paediatricians to improve the early diagnosis of these genetically determined defects. However, because of rarity and heterogeneity of these disorders, IEM encephalopathies are still a formidable challenge for most physicians. The most frequent cause of childhood IEM encephalopathy is mitochondrial disease, whose biochemical 'signature' is faulty energy supply due to defects of the last component of the oxidative pathways residing within mitochondria, i.e. the mitochondrial respiratory chain.
| Original language | English |
|---|---|
| Pages (from-to) | 205-215 |
| Number of pages | 11 |
| Journal | Seminars in Fetal and Neonatal Medicine |
| Volume | 16 |
| Issue number | 4 |
| DOIs | |
| Publication status | Published - Aug 2011 |
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Keywords
- Encephalomyopathies
- Mitochondrial disorders
- Mitochondrial DNA
- Respiratory chain deficiencies
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
Cite this
Infantile mitochondrial encephalopathy. / Uziel, Graziella; Ghezzi, Daniele; Zeviani, Massimo.
In: Seminars in Fetal and Neonatal Medicine, Vol. 16, No. 4, 08.2011, p. 205-215.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Infantile mitochondrial encephalopathy
AU - Uziel, Graziella
AU - Ghezzi, Daniele
AU - Zeviani, Massimo
PY - 2011/8
Y1 - 2011/8
N2 - Individually rare, when taken as a whole, genetic inborn errors of metabolism (IEM) account for a significant proportion of early onset encephalopathy. Prompt diagnosis is crucial to assess appropriate investigation and can sometimes warrant successful therapy. Recent improvements in technology and expansion of knowledge on the biochemical and molecular basis of these disorders allow astute child neurologists and paediatricians to improve the early diagnosis of these genetically determined defects. However, because of rarity and heterogeneity of these disorders, IEM encephalopathies are still a formidable challenge for most physicians. The most frequent cause of childhood IEM encephalopathy is mitochondrial disease, whose biochemical 'signature' is faulty energy supply due to defects of the last component of the oxidative pathways residing within mitochondria, i.e. the mitochondrial respiratory chain.
AB - Individually rare, when taken as a whole, genetic inborn errors of metabolism (IEM) account for a significant proportion of early onset encephalopathy. Prompt diagnosis is crucial to assess appropriate investigation and can sometimes warrant successful therapy. Recent improvements in technology and expansion of knowledge on the biochemical and molecular basis of these disorders allow astute child neurologists and paediatricians to improve the early diagnosis of these genetically determined defects. However, because of rarity and heterogeneity of these disorders, IEM encephalopathies are still a formidable challenge for most physicians. The most frequent cause of childhood IEM encephalopathy is mitochondrial disease, whose biochemical 'signature' is faulty energy supply due to defects of the last component of the oxidative pathways residing within mitochondria, i.e. the mitochondrial respiratory chain.
KW - Encephalomyopathies
KW - Mitochondrial disorders
KW - Mitochondrial DNA
KW - Respiratory chain deficiencies
UR - http://www.scopus.com/inward/record.url?scp=79959869855&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=79959869855&partnerID=8YFLogxK
U2 - 10.1016/j.siny.2011.04.003
DO - 10.1016/j.siny.2011.04.003
M3 - Article
VL - 16
SP - 205
EP - 215
JO - Seminars in Fetal and Neonatal Medicine
JF - Seminars in Fetal and Neonatal Medicine
SN - 1744-165X
IS - 4
ER -