Abstract
Four muscle biopsies from the quadriceps femoris muscle of children with symptoms suggesting mitochondrial encephalomyopathy were examined for morphological and biochemical differences. From a biochemical point of view, our patients showed a derangement of mitochondrial metabolism and in particular a marked deficit in the activity of cytochrome c oxidase. In all patients there was an abnormally high rise of lactate and pyruvic acid levels in blood before and after glucose loading. Results of morphological and enzyme histochemical studies showed smaller muscle fibre diameters than in normal children. Typical red ragged fibres and ultrastructural abnormalities in muscle mitochondria were present in 1 case only. Three patients showed focal changes in the distribution of some sarcoplasmic oxidative enzyme activities. The present findings suggest that the main metabolic disorder, pointed out by biochemical studies, is scarcely reflected by morphological and ultrastructural studies in the early stages of mitochondriopathies.
| Original language | English |
|---|---|
| Pages (from-to) | 54-61 |
| Number of pages | 8 |
| Journal | European Neurology |
| Volume | 33 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - 1993 |
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Keywords
- Enzyme activities
- Light and electron microscopy
- Mitochondrial encephalomyopathy
- Skeletal muscle metabolism
ASJC Scopus subject areas
- Clinical Neurology
- Neurology
Cite this
Infantile mitochondria encephalomyopathies : Report on 4 cases. / Pastoris, Ornella; Dossena, Maurizia; Scelsi, Roberto; Savasta, Salvalore; Bianchi, Elena.
In: European Neurology, Vol. 33, No. 1, 1993, p. 54-61.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Infantile mitochondria encephalomyopathies
T2 - Report on 4 cases
AU - Pastoris, Ornella
AU - Dossena, Maurizia
AU - Scelsi, Roberto
AU - Savasta, Salvalore
AU - Bianchi, Elena
PY - 1993
Y1 - 1993
N2 - Four muscle biopsies from the quadriceps femoris muscle of children with symptoms suggesting mitochondrial encephalomyopathy were examined for morphological and biochemical differences. From a biochemical point of view, our patients showed a derangement of mitochondrial metabolism and in particular a marked deficit in the activity of cytochrome c oxidase. In all patients there was an abnormally high rise of lactate and pyruvic acid levels in blood before and after glucose loading. Results of morphological and enzyme histochemical studies showed smaller muscle fibre diameters than in normal children. Typical red ragged fibres and ultrastructural abnormalities in muscle mitochondria were present in 1 case only. Three patients showed focal changes in the distribution of some sarcoplasmic oxidative enzyme activities. The present findings suggest that the main metabolic disorder, pointed out by biochemical studies, is scarcely reflected by morphological and ultrastructural studies in the early stages of mitochondriopathies.
AB - Four muscle biopsies from the quadriceps femoris muscle of children with symptoms suggesting mitochondrial encephalomyopathy were examined for morphological and biochemical differences. From a biochemical point of view, our patients showed a derangement of mitochondrial metabolism and in particular a marked deficit in the activity of cytochrome c oxidase. In all patients there was an abnormally high rise of lactate and pyruvic acid levels in blood before and after glucose loading. Results of morphological and enzyme histochemical studies showed smaller muscle fibre diameters than in normal children. Typical red ragged fibres and ultrastructural abnormalities in muscle mitochondria were present in 1 case only. Three patients showed focal changes in the distribution of some sarcoplasmic oxidative enzyme activities. The present findings suggest that the main metabolic disorder, pointed out by biochemical studies, is scarcely reflected by morphological and ultrastructural studies in the early stages of mitochondriopathies.
KW - Enzyme activities
KW - Light and electron microscopy
KW - Mitochondrial encephalomyopathy
KW - Skeletal muscle metabolism
UR - http://www.scopus.com/inward/record.url?scp=0027532587&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0027532587&partnerID=8YFLogxK
U2 - 10.1159/000116902
DO - 10.1159/000116902
M3 - Article
C2 - 8440289
AN - SCOPUS:0027532587
VL - 33
SP - 54
EP - 61
JO - European Neurology
JF - European Neurology
SN - 0014-3022
IS - 1
ER -