A novel mutation in the ABCD1 gene of a Chinese patient with X-linked adrenoleukodystrophy: Case report

Medicine (Baltimore). 2018 May;97(21):e10837. doi: 10.1097/MD.0000000000010837.


Rationale: X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder, which is inherited as an X-linked recessive trait. ATP binding cassette subfamily D member 1 (ABCD1) localized to Xq28 is the only gene associated with ALD.

Patient concerns: We report a case of Chinese boy with childhood cerebral ALD, who began experiencing symptoms at the age of 5 years and 2 months. Very long chain fatty acids analysis revealed high levels of C24/C22 ratio and C26/C22 ratio in the plasma. Magnetic resonance imaging (MRI) showed abnormal bilateral white matter lesions in brainstem, temporal, occipital, and parietal lobes.

Diagnoses: Direct sequencing of the ABCD1 gene identified a novel c.1502del mutation on exon 6, which causes a substitution of the 501st amino acid from methionine to serine and finally the 557th codon is changed to stop codon.

Interventions: Special education and rehabilitation therapy.

Outcomes: The disease progressed rapidly and resulted in death at the age of 8 years.

Lessons: Early detection of mutations in the ABCD1 gene may facilitate diagnosis, genetic counseling and potentially aid prenatal diagnosis of the disease.

Publication types

  • Case Reports

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily D, Member 1 / genetics*
  • ATP-Binding Cassette Transporters / genetics
  • Adrenoleukodystrophy / genetics*
  • Adrenoleukodystrophy / rehabilitation
  • Asian People / genetics
  • Brain Stem / diagnostic imaging*
  • Brain Stem / pathology
  • Child
  • Child, Preschool
  • Disease Progression
  • Fatal Outcome
  • Fatty Acids / analysis
  • Genetic Counseling / methods
  • Humans
  • Magnetic Resonance Imaging / methods
  • Male
  • Mutation*
  • Phenotype
  • Prenatal Diagnosis / methods


  • ABCD1 protein, human
  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters
  • Fatty Acids