{"doi":"10.1002/ajmg.a.63941","title":"Subacute Neuropathy Post‐Liver Transplantation in Zellweger Spectrum Disorder: A Case Report","abstract":"Peroxisome biogenesis disorders-Zellweger spectrum disorder (PBD-ZSD) is a rare genetic disease caused by mutations in the genes involved in peroxisome biogenesis. PBD-ZSD presentations vary in severity, and treatment of PBD-ZSD remains supportive focused on specific complications. A few reported cases of the use of liver transplantation to treat either neurological symptoms or liver dysfunction and cirrhosis in PBD-ZSD have been published. In this case report, we document the course of a 16-year-old boy diagnosed with PBD-ZSD and a delayed and unexpected neuropathy that developed after undergoing orthotopic liver transplantation (OLT) for which the indication was liver cirrhosis. Following OLT, the patient's gamma-glutamyl transferase (GGT), aspartate aminotransferase (AST), alanine transaminase (ALT), and albumin normalized; however, he developed a polyneuropathy, the cause of which was investigated with conditions such as inflammatory neuropathies (Guillain Barré syndrome: GBS/chronic inflammatory demyelinating polyneuropathy: CIDP), drug effect, or underlying complication of PBD-ZSD all considered possible. His neuropathic symptoms improved and therefore this case represents an exploration of an apparent delayed and resolving subacute neuropathy in PBD-ZSD after OLT.","journal":"American Journal of Medical Genetics Part A","year":2024,"id":474693,"datarank":0.10397207708399181,"base_score":0.6931471805599453,"endowment":0.6931471805599453,"self_citation_contribution":0.10397207708399181,"citation_network_contribution":0.0,"self_endowment_contribution":0.10397207708399181,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":1,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9549,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2024-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1311614,"name":"Madelyn J. Cohen","orcid":null,"position":1,"is_corresponding":false},{"id":1311190,"name":"Juhee Hong","orcid":"0000-0002-9552-8996","position":2,"is_corresponding":false},{"id":308538,"name":"Daniel G. Calame","orcid":"0000-0001-6860-372X","position":3,"is_corresponding":false},{"id":1311615,"name":"Kavitha Marri","orcid":null,"position":4,"is_corresponding":false},{"id":441454,"name":"Sanjiv Harpavat","orcid":"0000-0002-9964-2294","position":5,"is_corresponding":false},{"id":254709,"name":"Michael F. Wangler","orcid":"0000-0001-5245-5910","position":6,"is_corresponding":false},{"id":512288,"name":"Krupa R. Mysore","orcid":"0000-0001-9890-5518","position":7,"is_corresponding":false},{"id":1288614,"name":"Clarissa Gonzalez","orcid":null,"position":0,"is_corresponding":true}],"reference_count":20,"raw_metadata":{"citation_network_status":"fetched"},"created_at":"2026-07-19T02:06:13.042906Z","pmid":"39632697","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}