{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T22:32:49Z","timestamp":1790375569990,"version":"4.1.0"},"reference-count":22,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,3,10]],"date-time":"2021-03-10T00:00:00Z","timestamp":1615334400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2021,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Peripheral neuropathy is a known irreversible long\u2010term complication of long\u2010chain 3\u2010hydroxyacyl\u2010CoA dehydrogenase deficiency (LCHADD) and mitochondrial trifunctional protein deficiency (MTPD), two inherited disorders of mitochondrial long\u2010chain fatty acid oxidation. The underlying pathophysiology of neuropathy is still not fully understood. We report electrophysiological studies and neurological findings in a series of 8 LCHAD\u2010deficient and 11 MTP\u2010deficient patients. The median age at time of the study was 8.0\u2009years (0.5\u201025\u2009years). The overall prevalence of neuropathy was 58% with neuropathic symptoms being slightly more common in MTPD compared to LCHADD (70% vs 50%, respectively). Onset of neuropathy was significantly earlier in MTPD patients compared to LCHADD patients (median age at onset 4.7 vs 15.3\u2009years, respectively, <jats:italic>P<\/jats:italic>\u00a0=\u00a0.047). In four patients, isolated peripheral neuropathy was the first and only presenting symptom, and in all four the diagnosis was missed by newborn screening. About half of the patients (45.5%) had a sensorimotor neuropathy, while 27.3% showed a pure motor form and another 27.3% an isolated sensory form. Despite early diagnosis by newborn screening and early initiation of therapy, peripheral neuropathy cannot be prevented in all patients with LCHADD\/MTPD and has severe impact on the life of affected patients. Electrophysiology classifies LCHADD\/MTPD neuropathy as axonal with secondary demyelination. A novel observation is that in patients with acute, fulminant onset of neuropathy, symptoms can be partly reversible. Further studies are needed to elucidate the underlying pathophysiology of axonal damage and possible therapeutic targets.<\/jats:p>","DOI":"10.1002\/jimd.12372","type":"journal-article","created":{"date-parts":[[2021,2,27]],"date-time":"2021-02-27T08:04:45Z","timestamp":1614413085000},"page":"893-902","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein"],"prefix":"10.1002","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5986-0468","authenticated-orcid":false,"given":"Sarah C.","family":"Gr\u00fcnert","sequence":"first","affiliation":[{"name":"Department of General Pediatrics Adolescent Medicine and Neonatology, Medical Center\u2010University of Freiburg, Faculty of Medicine  Freiburg 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Medical Center Eppendorf  Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ren\u00e9","family":"Santer","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University Medical Center Eppendorf  Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Tucci","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics Adolescent Medicine and Neonatology, Medical Center\u2010University of Freiburg, Faculty of Medicine  Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ute","family":"Spiekerkoetter","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics Adolescent Medicine and Neonatology, Medical Center\u2010University of Freiburg, Faculty of Medicine  Freiburg 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