{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T21:27:47Z","timestamp":1760131667924},"reference-count":51,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[1993,3,1]],"date-time":"1993-03-01T00:00:00Z","timestamp":730944000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1993,3]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Mitochondrial myopathies and defects in oxidative phosphorylation have been described in some patients with peroxisomal disorders. Although peroxisomes and mitochondria play a role in the \u03b2\u2010oxidation of fatty acids, the metabolic interactions between the two are not well defined. Defects in peroxisomal \u03b2\u2010oxidation are associated with extracellular accumulation of very long\u2010chain fatty acids and may be accompanied by alterations in the intracellular pool of fatty acyl\u2010CoAs, which are known to alter mitochondrial function. This study was initiated to examine alterations in the intracellular pool of acyl\u2010CoAs and mitochondrial function in two children with generalized disorders of peroxisomal function and clinical lactic\/pyruvic acidaemia. Fibroblasts were cultured from skin biopsies obtained from one child with neonatal adrenoleukodystrophy (NALD) and another with rhizomelic chondrodysplasia punctata (RCDP). Fibroblast lactate oxidation was significantly inhibited in NALD by 76% and RCDP by 92% compared to control values of 1.9\u00b10.1 nmol\/min per mg protein. Pyruvate dehydrogenase (PDH) (mean\u00b1SEM; activity nmol\/min per mg protein) was: NALD 0.55\u00b10.02 (<jats:italic>p<\/jats:italic>&lt;0.01), RCDP 0.44\u00b10.02 (<jats:italic>p<\/jats:italic>&lt;0.01), and controls 0.83\u00b10.02. The acid\u2010insoluble (long\u2010chain and very long\u2010chain) acyl\u2010CoA levels (mean\u00b1SEM; pmol\/mg protein) were: NALD 129\u00b169 (<jats:italic>p<\/jats:italic>&lt;0.01), RCDP 65\u00b115 (<jats:italic>p<\/jats:italic>&lt;0.05), and control 45\u00b17. These two patients with generalized peroxisomal disorders exhibited an increase in intracellular acyl\u2010CoA species accompanied by decreased PDH activity and clinical lactic\/pyruvic acidaemia.<\/jats:p>","DOI":"10.1007\/bf00710284","type":"journal-article","created":{"date-parts":[[2004,12,1]],"date-time":"2004-12-01T12:15:16Z","timestamp":1101903316000},"page":"368-380","source":"Crossref","is-referenced-by-count":9,"title":["Lactic acidosis and mitochondrial dysfunction in two children with peroxisomal disorders"],"prefix":"10.1002","volume":"16","author":[{"given":"R. D.","family":"Holmes","sequence":"first","affiliation":[{"name":"Departments of Pediatrics and Clinical Pathology William Beaumont Hospital  Royal Oak MI 48073"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K. H.","family":"Moore","sequence":"additional","affiliation":[{"name":"Department of Chemistry Oakland University  Rochester MI 48309 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. P.","family":"Ofenstein","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Clinical Pathology William Beaumont Hospital  Royal Oak MI 48073"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Tsatsos","sequence":"additional","affiliation":[{"name":"Department of Chemistry Oakland University  Rochester MI 48309 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F. L.","family":"Kiechle","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Clinical Pathology William Beaumont Hospital  Royal Oak MI 48073"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1993,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(69)90312-1"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0005-2760(85)90237-1"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.1979.tb13051.x"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj2240709"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.2337\/diab.33.7.681"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(84)90016-2"},{"key":"e_1_2_1_8_1","first-page":"217","volume-title":"Fatt Acid Oxidation: Clinical, Biochemical and Molecular Aspects","author":"Corkey 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