ACADL was first reported in relation to autosomal recessive long chain acyl-CoA dehydrogenase deficiency in 1993 (Yamaguchi S, et al., 1993, PMID: 8356011). Initial reports of LCAD deficient patients (PMIDs 1945557 and 4022672) were subsequently found to have a VLCAD deficiency and/or no pathogenic LCAD variants were identified. More recent reports (PMID 24591516) suggest that LCAD deficiency may manifest primarily as pulmonary disease, however the only identified variant remains a common polymorphism (Lys333Gln) for which there is some evidence of a functional impact (PMID 32389575). In summary, there is convincing evidence disputing the relationship between ACADL and autosomal recessive long chain acyl-CoA dehydrogenase deficiency. More evidence is needed to either support or refute the role ACADL plays in this disease.
This gene-disease pair was originally evaluated by the FAO GCEP on 09/25/2018. It was reevaluated on 01/15/2021 and 03/07/2024. As a result of this reevaluation, the classification did not change as no new information is contributing to the classification.
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