Abstract:
:Human carnitine palmitoyltransferase (CPT) deficiency results in 2 clinical forms: a more common "muscular form" with myoglobinuria with or without delayed or impaired ketogenesis and a rare "hepatic form" with hypoketotic hypoglycemia, encephalopathy and seizures without muscular manifestations. We present 2 patients, a male (patient 1) and a female (patient 2) with infantile "hepatic" CPT deficiency and previously documented CPT1 deficiency in fibroblasts. In patient 2, a deficiency of "total" CPT activity in liver had also been previously documented. We set up an isotope exchange assay system that effectively differentiated CPT1 and CPT2 activities in muscle. We found normal CPT1 and CPT2 activities in our patients under near saturating substrate conditions. The CPT1 and CPT2 activities were suppressed to a strikingly similar degree under different kinetic conditions as compared to control muscle and were found to have similar Km values for carnitine and PCoA. With Km concentrations of carnitine, the mean residual activities of CPT1 for patients 1 and 2 were 49 and 44%, respectively (control range 40-53%); the mean residual activities of CPT2 were 60 and 46%, respectively (control range 49-59%). With Km concentrations of PCoA, the mean residual activities of CPT1 for patients 1 and 2 were 52 and 58%, respectively (control range of 52-59%); mean residual activities of CPT2 were 54% and 56%, respectively (control range of 51-68%). When the Vmax concentration of PCoA was doubled and bovine serum albumin reduced to 0.1%, the mean residual activities of CPT1 for patients 1 and 2 were 69 and 63%, respectively (control range 60-80%). In "muscular" patients, a marked absolute deficiency of CPT2 activity (less than 12% residual) was found with an apparent increased sensitivity to suppression of enzymatic activity when the Km concentration of carnitine was used. We suggest that CPT1 and CPT2 may be separate proteins. Furthermore, CPT1 itself may exist as tissue-specific isoforms being the same protein in liver and fibroblasts and a different protein in muscle. Either could be encoded for by the same or closely related genes.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Tein I,Demaugre F,Bonnefont JP,Saudubray JMdoi
10.1016/0022-510x(89)90139-1subject
Has Abstractpub_date
1989-09-01 00:00:00pages
229-45issue
2-3eissn
0022-510Xissn
1878-5883pii
0022-510X(89)90139-1journal_volume
92pub_type
杂志文章abstract::The aim of this study was to determine the effectiveness of hypoglossal-facial nerve "side"-to-end (HemiHN-FN) and accessory-facial nerve end-to-end (AN-FN) neurorrhaphy using a predegenerated nerve graft (PNG) for reanimating facial paralysis in a rat FN injury model. A total of 25 rats with complete unilateral facia...
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journal_title:Journal of the neurological sciences
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journal_title:Journal of the neurological sciences
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abstract::Clinical awakening can be seen just before or after seizure onsets. In this study we determined the time between onset of seizures and awakening in patients with frontal lobe epilepsy (FLE) and temporal lobe epilepsy (TLE). Sixty-eight patients who underwent video-EEG monitoring with simultaneous PSG were retrospectiv...
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journal_title:Journal of the neurological sciences
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doi:10.1016/0022-510x(79)90050-9
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journal_title:Journal of the neurological sciences
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doi:10.1016/s0022-510x(97)00313-4
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journal_title:Journal of the neurological sciences
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journal_title:Journal of the neurological sciences
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journal_title:Journal of the neurological sciences
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journal_title:Journal of the neurological sciences
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journal_title:Journal of the neurological sciences
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更新日期:2007-12-15 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(80)80001-3
更新日期:1980-02-01 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2013.10.001
更新日期:2014-01-15 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2018.08.024
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章,多中心研究
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journal_title:Journal of the neurological sciences
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journal_title:Journal of the neurological sciences
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journal_title:Journal of the neurological sciences
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
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更新日期:1994-12-20 00:00:00
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pub_type: 杂志文章,评审
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更新日期:2002-11-15 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
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更新日期:1979-04-01 00:00:00
abstract:OBJECTIVE:To determine the sensitivity and specificity of clonal immunoglobulin heavy chain gene rearrangement (IGHR) analysis in the distinction of benign and malignant lymphoproliferative diseases. METHODS:A retrospective analysis was conducted of patients in whom a malignant lymphoproliferative process was suspecte...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2006.05.044
更新日期:2006-09-25 00:00:00
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pub_type: 杂志文章
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更新日期:1985-05-01 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
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更新日期:1999-06-15 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2007.12.017
更新日期:2008-06-15 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 临床试验,杂志文章
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更新日期:1999-01-15 00:00:00