Canavan disease prenatal diagnosis and genetic counseling.

Abstract:

:Canavan disease is a severe leukodystrophy more common among Ashkenazi Jews. The enzyme defect, apartoacylase, has been identified, and the gene cloned. Only two mutations account for over 98% of all Jewish alleles with Canavan disease. The carrier frequency among healthy Jews is 1:37-58. Carrier detection and prenatal diagnosis can be accurately carried out using molecular analysis. When mutations are unknown, analysis of amniotic fluid for NAA using stable isotope dilution technique can be used for prenatal diagnosis.

authors

Matalon R,Matalon KM

doi

10.1016/s0889-8545(01)00003-1

subject

Has Abstract

pub_date

2002-06-01 00:00:00

pages

297-304

issue

2

eissn

0889-8545

issn

1558-0474

pii

S0889-8545(01)00003-1

journal_volume

29

pub_type

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