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ACOX1-sEDD

Previously: Peroxisomal acyl-CoA oxidase deficiency

sEDD Gene: ACOX1 AR/AD

Onset: Congenital

Pathway: Lipid synthesis and transport

Category Paper: sEDD Paper

Key Clinical Clues

Scaling, erythroderma.

Additional Extracutaneous Features

Neonatal hypotonia, seizures, apnoeic spells, delayed psychomotor development, inflammatory and demyelinating peripheral and central neuropathies, dysmorphic features (hypertelorism, epicanthus, low nasal bridge, low-set ears, polydactyly), hearing and vision loss.

Treatment

Topical antioxidant N-acetylcysteine (Gong, 2025).

References

Gong Z, Yang S, Ling S et al. Dermatopathological features and successful treatment with topical antioxidant for ichthyosiform lesions in Mitchell syndrome caused by an ACOX1 variant. J Dermatol 2025, 52:445-51. || Thiels C, Lucke T, Rothoeft T et al. ACOX1 gain-of-function variant in two German pediatric patients, in one case mimicking autoimmune inflammatory disease. Neuropediatrics 2024; 55:140-5. || Filippi C, Brunetti S, Plumari M et al. ACOX1 gain-of-function variation in a 10-years-old patient responsive to immunomodulating therapy. Am J Med Genet A 2024; 194:e63796.

Summarised from published literature for general information. This is not medical advice, and entries are still being verified. Read the full disclaimer