A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q
A patient is presented who had therapy-resistant epileptic seizures from the 7th day of life. Examination at the age of 17 months revealed a mentally retarded boy with epileptic seizures, generalised myoclonic contractions, and abnormal ocular movements. A cerebral CT scan showed central and cortica...
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| Veröffentlicht in: | European journal of pediatrics 1986-02, Vol.144 (5), p.441-444 |
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| container_title | European journal of pediatrics |
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| creator | FISCHER, J. C RUITENBEEK, W GABREELS, F. J. M JANSSEN, A. J. M RENIER, W. O SENGERS, R. C. A STADHOUDERS, A. M LAAK, H. J. T TRIJBELS, J. M. F VEERKAMP, J. H |
| description | A patient is presented who had therapy-resistant epileptic seizures from the 7th day of life. Examination at the age of 17 months revealed a mentally retarded boy with epileptic seizures, generalised myoclonic contractions, and abnormal ocular movements. A cerebral CT scan showed central and cortical atrophy. Lactate levels in serum, cerebrospinal fluid and urine were elevated, the pyruvate level was raised in serum. A quadriceps muscle biopsy revealed aspecific morphologic signs of a myopathy. Biochemical analysis showed decreased substrate oxidation rates in the mitochondria associated with low rates of ATP production. Total and free carnitine levels were decreased. Investigation of the respiratory chain revealed a defect in the proximal part of respiratory chain involving the region of coenzyme Q. Based on clinical and chemical data it is likely that the patient is suffering from a multi-system disorder. |
| doi_str_mv | 10.1007/BF00441735 |
| format | Article |
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C ; RUITENBEEK, W ; GABREELS, F. J. M ; JANSSEN, A. J. M ; RENIER, W. O ; SENGERS, R. C. A ; STADHOUDERS, A. M ; LAAK, H. J. T ; TRIJBELS, J. M. F ; VEERKAMP, J. H</creator><creatorcontrib>FISCHER, J. C ; RUITENBEEK, W ; GABREELS, F. J. M ; JANSSEN, A. J. M ; RENIER, W. O ; SENGERS, R. C. A ; STADHOUDERS, A. M ; LAAK, H. J. T ; TRIJBELS, J. M. F ; VEERKAMP, J. H</creatorcontrib><description>A patient is presented who had therapy-resistant epileptic seizures from the 7th day of life. Examination at the age of 17 months revealed a mentally retarded boy with epileptic seizures, generalised myoclonic contractions, and abnormal ocular movements. A cerebral CT scan showed central and cortical atrophy. Lactate levels in serum, cerebrospinal fluid and urine were elevated, the pyruvate level was raised in serum. A quadriceps muscle biopsy revealed aspecific morphologic signs of a myopathy. Biochemical analysis showed decreased substrate oxidation rates in the mitochondria associated with low rates of ATP production. Total and free carnitine levels were decreased. Investigation of the respiratory chain revealed a defect in the proximal part of respiratory chain involving the region of coenzyme Q. Based on clinical and chemical data it is likely that the patient is suffering from a multi-system disorder.</description><identifier>ISSN: 0340-6199</identifier><identifier>EISSN: 1432-1076</identifier><identifier>DOI: 10.1007/BF00441735</identifier><identifier>PMID: 3956532</identifier><identifier>CODEN: EJPEDT</identifier><language>eng</language><publisher>Heidelberg: Springer</publisher><subject>Acidosis - complications ; Adenosine Triphosphate - metabolism ; Biological and medical sciences ; Brain Diseases - enzymology ; Diseases of striated muscles. Neuromuscular diseases ; Epilepsy - complications ; Humans ; Infant ; Intellectual Disability - complications ; Lactates - metabolism ; Male ; Medical sciences ; Mitochondria, Muscle - ultrastructure ; Muscle Spasticity - complications ; Muscle Spasticity - enzymology ; Myoclonus - complications ; NAD - metabolism ; Neurology ; Nystagmus, Pathologic - complications ; Oxidation-Reduction ; Pyruvates - metabolism ; Ubiquinone - metabolism</subject><ispartof>European journal of pediatrics, 1986-02, Vol.144 (5), p.441-444</ispartof><rights>1986 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c311t-9d1bc2afd287c0b78cd99b85def1aede7b25dc568bd83d85df6bbf591a369a633</citedby><cites>FETCH-LOGICAL-c311t-9d1bc2afd287c0b78cd99b85def1aede7b25dc568bd83d85df6bbf591a369a633</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>315,781,785,27926,27927</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=8581694$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/3956532$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>FISCHER, J. 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Lactate levels in serum, cerebrospinal fluid and urine were elevated, the pyruvate level was raised in serum. A quadriceps muscle biopsy revealed aspecific morphologic signs of a myopathy. Biochemical analysis showed decreased substrate oxidation rates in the mitochondria associated with low rates of ATP production. Total and free carnitine levels were decreased. Investigation of the respiratory chain revealed a defect in the proximal part of respiratory chain involving the region of coenzyme Q. Based on clinical and chemical data it is likely that the patient is suffering from a multi-system disorder.</description><subject>Acidosis - complications</subject><subject>Adenosine Triphosphate - metabolism</subject><subject>Biological and medical sciences</subject><subject>Brain Diseases - enzymology</subject><subject>Diseases of striated muscles. Neuromuscular diseases</subject><subject>Epilepsy - complications</subject><subject>Humans</subject><subject>Infant</subject><subject>Intellectual Disability - complications</subject><subject>Lactates - metabolism</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Mitochondria, Muscle - ultrastructure</subject><subject>Muscle Spasticity - complications</subject><subject>Muscle Spasticity - enzymology</subject><subject>Myoclonus - complications</subject><subject>NAD - metabolism</subject><subject>Neurology</subject><subject>Nystagmus, Pathologic - complications</subject><subject>Oxidation-Reduction</subject><subject>Pyruvates - metabolism</subject><subject>Ubiquinone - metabolism</subject><issn>0340-6199</issn><issn>1432-1076</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1986</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpF0E1LxDAQBuAgiq4fF-9CDuJBqCZNmzbeVPwCQQQ9l0kysZW0WZussv56qy56Gph5eBleQvY5O-GMVacX14wVBa9EuUZmvBB5xlkl18mMiYJlkiu1RbZjfGUTVrzeJJtClbIU-Yy8nNO-S8G0YbBjB57iYHDegg_9MswhtcszmlqkrhtjogYi0o8utRQGijGB9l1s0VKLDk2ikH6wx3f0NDhqAg6fyx7p4y7ZcOAj7q3mDnm-vnq6vM3uH27uLs_vMyM4T5myXJscnM3ryjBd1cYqpetyyueAFiudl9aUsta2FnbaO6m1KxUHIRVIIXbI0W_ufAxvi-nFpu-iQe9hwLCITSUrWXDBJnj8C80YYhzRNfOx62FcNpw13602_61O-GCVutA92j-6qnG6H67uEA14N8JguvjH6rLmUhXiC2K2gBM</recordid><startdate>19860201</startdate><enddate>19860201</enddate><creator>FISCHER, J. 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Neuromuscular diseases</topic><topic>Epilepsy - complications</topic><topic>Humans</topic><topic>Infant</topic><topic>Intellectual Disability - complications</topic><topic>Lactates - metabolism</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Mitochondria, Muscle - ultrastructure</topic><topic>Muscle Spasticity - complications</topic><topic>Muscle Spasticity - enzymology</topic><topic>Myoclonus - complications</topic><topic>NAD - metabolism</topic><topic>Neurology</topic><topic>Nystagmus, Pathologic - complications</topic><topic>Oxidation-Reduction</topic><topic>Pyruvates - metabolism</topic><topic>Ubiquinone - metabolism</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>FISCHER, J. C</creatorcontrib><creatorcontrib>RUITENBEEK, W</creatorcontrib><creatorcontrib>GABREELS, F. J. M</creatorcontrib><creatorcontrib>JANSSEN, A. J. M</creatorcontrib><creatorcontrib>RENIER, W. O</creatorcontrib><creatorcontrib>SENGERS, R. C. 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Biochemical analysis showed decreased substrate oxidation rates in the mitochondria associated with low rates of ATP production. Total and free carnitine levels were decreased. Investigation of the respiratory chain revealed a defect in the proximal part of respiratory chain involving the region of coenzyme Q. Based on clinical and chemical data it is likely that the patient is suffering from a multi-system disorder.</abstract><cop>Heidelberg</cop><cop>Berlin</cop><pub>Springer</pub><pmid>3956532</pmid><doi>10.1007/BF00441735</doi><tpages>4</tpages></addata></record> |
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| ispartof | European journal of pediatrics, 1986-02, Vol.144 (5), p.441-444 |
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| subjects | Acidosis - complications Adenosine Triphosphate - metabolism Biological and medical sciences Brain Diseases - enzymology Diseases of striated muscles. Neuromuscular diseases Epilepsy - complications Humans Infant Intellectual Disability - complications Lactates - metabolism Male Medical sciences Mitochondria, Muscle - ultrastructure Muscle Spasticity - complications Muscle Spasticity - enzymology Myoclonus - complications NAD - metabolism Neurology Nystagmus, Pathologic - complications Oxidation-Reduction Pyruvates - metabolism Ubiquinone - metabolism |
| title | A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q |
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