Molecular analysis in X-linked adrenoleukodystrophy patients: identification of a novel mutation.

[x-linked adrenoleukodystrophy]

X linked adrenoleukodystrophy (X-ALD ) is a neurodegenerative disease characterized by progressive demyelination of the central nervous system , adrenocortical insufficiency and elevated levels of very long chain fatty acids (VLCFAs ). It is caused by mutations in ABCD 1 gene located at Xq 28 . More than 1 ,300 mutations have been identified to date which is unique to each patient . In this study we report the mutational analysis of 2 X-ALD patients (1 male and 1 female ) showing variable clinical spectrum . The mutation analysis of the female patient revealed IVS 5 -6 delC (c .1489 -6 delC ) and p . P 543 L variations in compound heterozygous state . The male patient was found to be hemizygous for a novel mutation , p . R 104 P . In conclusion , while defining a novel mutation , the cases presented herein may contribute to the mutation and clinical spectrum of X-ALD .

Diseases
Validation

Diseases presenting "adrenocortical insufficiency and elevated levels of very long chain fatty acids" symptom

x-linked adrenoleukodystrophy

You can validate or delete this automatically detected symptom