Beta
41265

Metachromatic leukodystrophy in Egyptianchildren with dysmyelinating brain disease

Thesis

Last updated: 06 Feb 2023

Subjects

-

Tags

Clinical & Chemical Pathology

Advisors

Hasan, Fayza A. , Selim, Layla A. , Fayeq, Nahla A.

Authors

Tawfiq, Lamyaa Tareq Muhammad

Accessioned

2017-07-12 06:40:14

Available

2017-07-12 06:40:14

type

M.Sc. Thesis

Abstract

Metachromatic leukodystrophy (MLD) is an autosomal recessive neurodegenerative disease caused by a deficiency of the lysosomal enzyme aryl sulfatase A (ARSA). To detect MLD cases among twenty patients presenting with symptoms of cerebral white matter disease and evidence of white matter affection by MRI. ARSA enzyme activity was estimated in blood leucocytes for all patients. Three cases had low ARSA activity. To these three probands and their family members (for carrier detection), two points of mutations in exon 2 in ARSA gene were searched for; p.R114X and p.G122C. This was done using polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP) technique. Only one family had the p.G122C point mutation in the homozygous state in both the proband and his father while his mother was a heteozygote.

Issued

1 Jan 2011

DOI

http://dx.doi.org/10.21473/iknito-space/35202

Details

Type

Thesis

Created At

28 Jan 2023