Prenatal diagnosis of canavan disease - Problems and dilemmas

Journal of Inherited Metabolic Disease

Volumn 22, Issue 3, 1999, Pages 263-266

  Besley, G T N ^a   Elpeleg, O N ^b   Shaag, A ^b   Manning, N J ^c   Jakobs, C ^d   Walter, J H ^a  

^a ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^b SHAARE ZEDEK MEDICAL CENTER   (Israel)

^c SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^d VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARTOACYCLASE; ENZYME; N ACETYLASPARTIC ACID; UNCLASSIFIED DRUG;

AMNION FLUID; BODY FLUID; BRAIN DISEASE; CANAVAN DISEASE; CELL CULTURE; CLINICAL ARTICLE; CONFERENCE PAPER; CONTROLLED STUDY; DEGENERATIVE DISEASE; DNA DETERMINATION; ENZYME ACTIVITY; ENZYME DEFICIENCY; FAMILY; FETUS; GENE MUTATION; GENE THERAPY; HETEROZYGOTE; HUMAN; HUMAN CELL; ISOTOPE DILUTION ASSAY; JEW; METABOLITE; PRENATAL DIAGNOSIS; TISSUE; URINALYSIS;

AMIDOHYDROLASES; AMNIOTIC FLUID; ASPARTIC ACID; CANAVAN DISEASE; FEMALE; FETAL DISEASES; HUMANS; INFANT; MALE; POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 0033059755     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005534105933     Document Type: Conference Paper

References (7)

1. Bennett MJ, Gibson KM, Sherwood WG, et al (1993) Reliable prenatal diagnosis of Canavan disease (aspartocylase deficiency): comparison of enzymatic and metabolite analysis. J Inher Metab Dis 16: 831-836.
2. During MJ (1996) Gene trail in New Zealand. Lancet 348: 618.
3. Elpeleg ON, Shaag A, Anikster Y, Jakobs C (1994) Prenatal diagnosis of Canavan disease (aspartoacylase deficiency) by DNA analysis. J Inher Metab Dis 17: 664-666.
4. Jakobs C, ten Brink HJ, Langelaar SA, et al (1991) Stable isotope dilution analysis of N-acetylaspartic acid in CSF, blood, urine and amniotic fluid: accurate postnatal diagnosis and the potential for prenatal diagnosis of Canavan disease. J Inher Metab Dis 14: 653-660.
5. Kelley RI (1993) Prenatal diagnosis of Canavan disease by measurement of N-acetylaspartate in amniotic fluid. J Inher Metab Dis 16: 918-919.
6. Matalon R, Michals K, Kaul R (1995) Canavan disease: from spongy degeneration to molecular analysis J Pediatr 127: 511-517.
7. Rolland MO, Mandon G, Bernard A, Zabot MT, Mathieu M (1994) Unreliable verification of prenatal diagnosis of Canavan disease: aspartocylase activity in deficient and normal fetal skin fibroblasts J Inher Metab Dis 17: 748.