{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:42:58Z","timestamp":1777804978107,"version":"3.51.4"},"reference-count":18,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2025,8,17]],"date-time":"2025-08-17T00:00:00Z","timestamp":1755388800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["NET-2019-12370049"],"award-info":[{"award-number":["NET-2019-12370049"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2026,2]]},"abstract":"<jats:p>\n                    Pathogenic variants in the\n                    <jats:italic toggle=\"yes\">HADHA<\/jats:italic>\n                    and\n                    <jats:italic toggle=\"yes\">HADHB<\/jats:italic>\n                    genes are associated with impairment of mitochondrial trifunctional protein. Mitochondrial trifunctional protein deficiency is a disorder of long-chain fatty acid oxidation with different clinical presentations: the neonatal-onset form expressing with severe cardiac phenotype, the infantile-onset form with intermediate hepatic phenotype with metabolic crises, and the late-onset form with mild neuromyopathic phenotype. Long-term complications in patients with the intermediate and late-onset phenotypes include peripheral neuropathy and retinopathy. We report a patient harboring 2 compound heterozygous variants in the\n                    <jats:italic toggle=\"yes\">HADHA<\/jats:italic>\n                    gene (p.Tyr724* and p.Gly319Ser) and presenting with an early-onset, progressive sensorimotor axonal polyneuropathy, without any other systemic manifestations typical of mitochondrial trifunctional protein deficiency. We also provide a literature review of\n                    <jats:italic toggle=\"yes\">HADHA<\/jats:italic>\n                    mutated patients presenting with early-onset isolated neuropathy phenotype.\n                  <\/jats:p>","DOI":"10.1177\/08830738251356850","type":"journal-article","created":{"date-parts":[[2025,8,18]],"date-time":"2025-08-18T06:08:16Z","timestamp":1755497296000},"page":"252-258","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Early-Onset Sensorimotor Axonal Neuropathy as Sole Manifestation of\n                    <i>HADHA<\/i>\n                    -Related Disorder\/ Mitochondrial Trifunctional Protein Defect"],"prefix":"10.1177","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-4969-7194","authenticated-orcid":false,"given":"Giulia","family":"Balletto","sequence":"first","affiliation":[{"name":"University of Genova"},{"name":"IRCCS Istituto G.Gaslini"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-8924-0651","authenticated-orcid":false,"given":"Giulia","family":"Barbagallo","sequence":"additional","affiliation":[{"name":"University of Genova"},{"name":"IRCCS Istituto G.Gaslini"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matteo","family":"Cataldi","sequence":"additional","affiliation":[{"name":"IRCCS Istituto G.Gaslini"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Germano","sequence":"additional","affiliation":[{"name":"E.O. Ospedali Galliera"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monica","family":"Traverso","sequence":"additional","affiliation":[{"name":"IRCCS Giannina Gaslini Institute"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deborah","family":"Leuzzi","sequence":"additional","affiliation":[{"name":"IRCCS Giannina Gaslini Institute"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marina","family":"Martinez Popple","sequence":"additional","affiliation":[{"name":"IRCCS Istituto G.Gaslini"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro","family":"Geroldi","sequence":"additional","affiliation":[{"name":"University of Genova"},{"name":"IRCCS Ospedale Policlinico San Martino"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabio","family":"Gotta","sequence":"additional","affiliation":[{"name":"IRCCS Ospedale Policlinico San Martino"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5842-6691","authenticated-orcid":false,"given":"Emilia","family":"Bellone","sequence":"additional","affiliation":[{"name":"University of Genova"},{"name":"IRCCS Ospedale Policlinico San Martino"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2194-7239","authenticated-orcid":false,"given":"Marcello","family":"Scala","sequence":"additional","affiliation":[{"name":"University of Genova"},{"name":"IRCCS Giannina Gaslini Institute"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Federico","family":"Zara","sequence":"additional","affiliation":[{"name":"University of Genova"},{"name":"IRCCS Giannina Gaslini Institute"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lino","family":"Nobili","sequence":"additional","affiliation":[{"name":"University of Genova"},{"name":"IRCCS Istituto G.Gaslini"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9027-343X","authenticated-orcid":false,"given":"Chiara","family":"Fiorillo","sequence":"additional","affiliation":[{"name":"University of Genova"},{"name":"IRCCS Istituto G.Gaslini"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2025,8,17]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-14-125"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12502"},{"key":"e_1_3_3_4_2","volume-title":"GeneReviews\u00ae","author":"Prasun P","year":"2022","unstructured":"Prasun P, LoPiccolo MK, Ginevic I. Long-chain hydroxyacyl-CoA dehydrogenase deficiency \/ trifunctional protein deficiency. In: Adam MP, Mirzaa GM, Pagon RA, et al., eds. GeneReviews\u00ae. University of Washington, Seattle; 2022."},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1080\/10408360091174169"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9090-x"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1007\/s13311-021-01145-z"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-023-01516-4"},{"issue":"1","key":"e_1_3_3_9_2","first-page":"38","article-title":"Peripheral neuropathy in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency \u2013 a follow-up EMG study of 12 patients","volume":"20","author":"Immonen T","year":"2016","unstructured":"Immonen T, Ahola E, Toppila J, Lapatto R, Tyni T, Lauronen L. Peripheral neuropathy in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency \u2013 a follow-up EMG study of 12 patients. Eur J Paediatr Neurol: EJPN: Off J Eur Paediatr Neurol Soc. 2016;20(1):38\u201344.","journal-title":"Eur J Paediatr Neurol: EJPN: Off J Eur Paediatr Neurol Soc"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-12-821751-1.00014-2"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2021.03.010"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.mcp.2019.01.003"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12372"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-020-10171-4"},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.23959"},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-020-73219-5"},{"key":"e_1_3_3_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurol.2019.11.011"},{"key":"e_1_3_3_18_2","first-page":"100884","article-title":"Outcomes and genotype correlations in patients with mitochondrial trifunctional protein or isolated long chain 3-hydroxyacyl-CoA dehydrogenase deficiency enrolled in the IBEM-IS database","volume":"32","author":"Lim CC","year":"2022","unstructured":"Lim CC, Vockley J, Ujah O, et al. Outcomes and genotype correlations in patients with mitochondrial trifunctional protein or isolated long chain 3-hydroxyacyl-CoA dehydrogenase deficiency enrolled in the IBEM-IS database. Mol Genet Metab Rep. 2022;32:100884. doi: https:\/\/doi.org\/10.1016\/j.ymgmr.2022.100884. 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