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Diagnostic Odyssey of Atypical Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants.

American journal of medical genetics. Part A - 1 Sept 2026

Furuta Yutaka, Rives Lynette C, Burrow T Andrew, Cassini Thomas A, Tinker Rory J, Robertson Amy K, Ezell Kimberly M, Hamid Rizwan, Cogan Joy D, Phillips John A

Abstract excerpt

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long-chain fatty acid β-oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22-year-old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN). Trio genome sequencing identified a maternally inherited HADHA frameshift...

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Source

Identifiers

PMID: 42037206
DOI: 10.1002/ajmg.a.70172

Genes

HADHA
HADHB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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