Clinical, biochemical, neuroimaging and molecular findings of X-linked Adrenoleukodystrophy patients in South China

Metab Brain Dis. 2015 Dec;30(6):1439-44. doi: 10.1007/s11011-015-9717-6. Epub 2015 Aug 12.


X-linked adrenoleukodystrophy is a common X-linked recessive peroxisomal disorder caused by the mutations in the ABCD1 gene. In this study, we analyzed 19 male patients and 9 female carriers with X-linked adrenoleukodystrophy in South China. By sequencing the ABCD1 gene, 13 different mutations were identified, including 7 novel mutations, and 6 known mutations, and 1 reported polymorphism. Mutation c.1180delG was demonstrated to be de novo mutation. 26.3 % (5/19) patients carried the deletion c.1415_16delAG, which may be the mutational hot spot in South China population. In addition, 73.7 % (14/19) patients were type of childhood cerebral adrenoleukodystrophy, 26.3 %(5/19) were in Addison only. Half of the childhood cerebral adrenoleukodystrophy patients had the adrenocortical insufficiency preceded the onset of neurological symptoms. Furthermore, 5 of 19 cases underwent hematopoietic stem cell transplantation. Our data showed that hematopoietic stem cell transplantation performed at an advanced stage of the cerebral X- linked adrenoleukodystrophy would accelerate the progression of the disease. Good clinical outcome achieved when hematopoietic stem cell transplantation performed at the very early stage of the disease.

Keywords: ABCD1; Adrenocortical insufficiency; Missense mutation; VLCFAs; X-linked adrenoleukodystrophy.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters / genetics*
  • Adrenal Insufficiency / etiology
  • Adrenal Insufficiency / genetics
  • Adrenocorticotropic Hormone / blood
  • Adrenoleukodystrophy* / genetics
  • Adrenoleukodystrophy* / pathology
  • Adrenoleukodystrophy* / therapy
  • Adult
  • Asian People / genetics*
  • Brain / pathology*
  • Child, Preschool
  • China
  • Disease Progression
  • Fatty Acids / metabolism
  • Female
  • Gene Deletion
  • Hematopoietic Stem Cell Transplantation* / adverse effects
  • Humans
  • Infant
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Male
  • Mutation*
  • Nervous System Diseases / etiology
  • Nervous System Diseases / genetics
  • Neuroimaging*
  • Time Factors
  • Young Adult


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