| Fatal infantile mitochondrial encephalomyopathy with complex I and IV deficiencies. | |
| | |
MedLine Citation:
|
PMID: 8388688 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
A 4-month-old male infant had a fatal infantile mitochondrial disease associated with cardiomyopathy. He had elevated lactate concentrations in blood and cerebrospinal fluid and an increased lactate/pyruvate ratio. Histochemical analysis of muscle biopsy revealed several ragged-red fibers on modified Gomori trichrome stain and mildly decreased cytochrome c oxidase (complex IV) activity. Complex I and IV activities of the respiratory chain in muscle were decreased to about 35% of normal values biochemically; subunits of the two complexes were decreased nonselectively on immunoblotting. Mitochondrial DNA analysis failed to detect any mutation. Complex I and IV deficiencies should be considered as one of the causes of fatal infantile mitochondrial disease. |
| | |
Authors:
|
T Nagai; Y Tuchiya; Y Taguchi; R Sakuta; T Ichiki; I Nonaka |
Related Documents
:
|
1582008 - Chronic hyperdynamic sepsis in the rat. ii. characterization of liver and muscle energy... 19009818 - In vivo assessment of mg2+ in human brain and skeletal muscle by 31p-mrs. 6318158 - Mitochondrial encephalomyopathy with decreased succinate-cytochrome c reductase activity. 1386568 - Acute myopathy during treatment of status asthmaticus with corticosteroids and steroida... 7097588 - The influence of visceral mechanoreceptors on sympathetic efferent discharge in the cat. 6050158 - The innervation of the vas deferens of the guinea-pig. |
Publication Detail:
|
Type: Case Reports; Journal Article |
Journal Detail:
|
Title: Pediatric neurology Volume: 9 ISSN: 0887-8994 ISO Abbreviation: Pediatr. Neurol. Publication Date: 1993 Mar-Apr |
Date Detail:
|
Created Date: 1993-07-01 Completed Date: 1993-07-01 Revised Date: 2007-11-15 |
Medline Journal Info:
|
Nlm Unique ID: 8508183 Medline TA: Pediatr Neurol Country: UNITED STATES |
Other Details:
|
Languages: eng Pagination: 151-4 Citation Subset: IM |
Affiliation:
|
Division of Ultrastructural Research; National Institute of Neuroscience, Tokyo, Japan. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Acidosis, Lactic
/
genetics,
pathology* Amino Acids / blood Biopsy Carnitine / deficiency Cytochrome-c Oxidase Deficiency* Follow-Up Studies Humans Infant Infant, Newborn Male Microscopy, Electron Mitochondrial Encephalomyopathies / genetics, pathology* Muscles / pathology NAD(P)H Dehydrogenase (Quinone) / deficiency* Neurologic Examination |
| Chemical | |
Reg. No./Substance:
|
0/Amino Acids; 541-15-1/Carnitine; EC 1.6.5.2/NAD(P)H Dehydrogenase (Quinone) |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Reye syndrome associated with subclinical varicella zoster virus and influenza A infection.
Next Document: The contribution of I-Abm12 to phenotypic and functional alterations among T-cell subsets in NZB mic...