Korean J Pediatr.  2014 Sep;57(9):416-419. 10.3345/kjp.2014.57.9.416.

A Korean boy with atypical X-linked adrenoleukodystrophy confirmed by an unpublished mutation of ABCD1

• Jwa HJ
• Lee KS
• Kim GH
• Yoo HW
• Lim HH

• KMID: 1727497
• DOI: http://doi.org/10.3345/kjp.2014.57.9.416

Abstract

X-linked adrenoleukodystrophy (X-ALD) is a rare peroxisomal disorder, that is rapidly progressive, neurodegenerative, and recessive, and characteristically primary affects the central nervous system white matter and the adrenal cortex. X-ALD is diagnosed basaed on clinical, radiological, and serological parameters, including elevated plasma levels of very long chain fatty acids (VLCFA), such as C24:0 and C26:0, and high C24:0/C22:0 and C26:0/C22:0 ratios. These tests are complemented with genetic analyses. A 7.5-year-old boy was admitted to Department of Pediatrics, Chungnam National University Hospital with progressive weakness of the bilateral lower extremities. Brain magnetic resonance imaging confirmed clinically suspected ALD. A low dose adrenocorticotropic hormone stimulation test revealed parital adrenal insufficiency. His fasting plasma levels of VLCFA showed that his C24:0/C22:0 and C26:0/C22:0 ratios were significantly elevated to 1.609 (normal, 0-1.390) and 0.075 (normal, 0-0.023), respectively. Genomic DNA was extracted from peripheral whole blood samples collected from the patient and his family. All exons of ABCD1 gene were amplified by polymerase chain reaction (PCR) using specific primers. Amplified PCR products were sequenced using the same primer pairs according to the manufacturer's instructions. We identified a missense mutation (p.Arg163Leu) in the ABCD1 gene of the proband caused by the nucleotide change 488G>T in exon 1. His asymptomatic mother carried the same mutation. We have reported an unpublished mutation in the ABCD1 gene in a patient with X-ALD, who showed increased ratio of C24:0/C22:0 and C26:0/C22:0, despite a normal VLCFA concentrations.

Keyword

Adrenoleukodystrophy; Mutation; ABCD1 gene

MeSH Terms

Adrenal Cortex
Adrenal Insufficiency
Adrenocorticotropic Hormone
Adrenoleukodystrophy*
Brain
Central Nervous System
Chungcheongnam-do
Complement System Proteins
DNA
Exons
Fasting
Fatty Acids
Humans
Lower Extremity
Magnetic Resonance Imaging
Male
Mothers
Mutation, Missense
Pediatrics
Peroxisomal Disorders
Plasma
Polymerase Chain Reaction
Adrenocorticotropic Hormone
Complement System Proteins
DNA
Fatty Acids