Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: Increased accuracy employing DNA, enzyme, and metabolite analyses

Molecular Genetics and Metabolism

Volumn 72, Issue 3, 2001, Pages 218-222

  Hogema, B M ^a,b,c   Akaboshi, S ^a   Taylor, M ^a   Salomons, G S ^b   Jakobs, C ^b   Schutgens, Ruud B ^b   Wilcken, B ^d   Worthington, S ^e   Maropoulos, G ^f   Grompe, M ^a   Gibson, K M ^a  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b VU UNIVERSITY AMSTERDAM   (Netherlands)

^c ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^d CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^e LIVERPOOL HOSPITAL   (Australia)

^f Aglaia Kyriakou Children's Hospital   (Greece)

Author keywords

4 hydroxybutyric aciduria; Amniocentesis; Amniocytes; Autosomal recessive inheritance; Chorionic villi; GABA (4 aminobutyric acid); Prenatal diagnosis; Succinic semialdehyde dehydrogenase; hydroxybutyric acid (GHB)

Indexed keywords

4 AMINOBUTYRIC ACID; 4 HYDROXYBUTYRIC ACID; SUCCINATE SEMIALDEHYDE DEHYDROGENASE;

4 AMINOBUTYRIC ACID METABOLISM; ACIDURIA; AMNIOCENTESIS; AMNION CELL; AMNION FLUID; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CELL CULTURE; CHORION VILLUS; CONTROLLED STUDY; DNA DETERMINATION; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME DEGRADATION; GENBANK; GENE AMPLIFICATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; STOP CODON;

EID: 18244371105     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.2000.3145     Document Type: Article

References (14)

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2. Disorders of β and gamma-amino acids in free and peptide linked forms
3. Pre- and postnatal diagnosis of succinic semialdehyde dehydrogenase deficiency using enzyme and metabolite assays
4. Unusual enzyme findings in five patients with metabolic profiles suggestive of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria)
5. A fluorimetric assay for succinic semialdehyde dehydrogenase activity suitable for prenatal diagnosis of the enzyme deficiency
6. Molecular cloning of the mature NAD(+)-dependent succinic semialdehyde dehydrogenase from rat and human, cDNA isolation, evolutionary homology, and tissue expression
7. Human succinic semialdehyde dehydrogenase. Molecular cloning and chromosomal localization
8. Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria)
9. Mutation analysis in succinic semialdehyde dehydrogenase (SSADH) deficiency (4-hydroxybutyric aciduria)
10. Prenatal diagnosis (PND) of succinic semialdehyde dehydrogenase (SSADH) deficiency: Increased accuracy using DNA, enzyme and metabolite analysis
11. Stable isotope dilution analysis of 4-hydroxybutyric acid: An accurate method for quantification in physiological fluids and the prenatal diagnosis of 4-hydroxybutyric aciduria
12. 4-Hydroxybutyric aciduria: Application of a fluorometric assay to the determination of succinic semialdehyde dehydrogenase activity in extracts of cultured human lymphoblasts
13. A simple salting out procedure for extracting DNA from human nucleated cells
14. Betaine improves the PCR amplification of GC-rich DNA sequences