Abstract | OBJECTIVE: To demonstrate the feasibility of prenatal diagnosis by molecular genetics in all urea cycle defects in order to improve and standardize the current approaches. METHODS: RESULTS: Molecular genetics allowed the determination of the fetal status in all cases. Besides 14 known mutations, we detected the novel mutation c.544delC of the N-acetylglutamate synthase gene, the novel missense mutation c.721G>A (E241K) of the argininosuccinate lyase gene, and the novel double mutated allele comprising the known mutation c.703G>A (G235R) and the novel insertion c.712ins[GGACC](2) (254X) of the arginase 1 gene. CONCLUSION: Direct genetic analysis of chorionic villi or amniotic fluid cells is feasible, fast, and specific, and can be regarded as the method of choice for prenatal diagnosis in urea cycle disorders.
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Authors | Johannes Häberle, Hans Georg Koch |
Journal | Prenatal diagnosis
(Prenat Diagn)
Vol. 24
Issue 5
Pg. 378-83
(May 2004)
ISSN: 0197-3851 [Print] England |
PMID | 15164414
(Publication Type: Journal Article)
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Copyright | Copyright 2004 John Wiley & Sons, Ltd. |
Chemical References |
- Urea
- Acetyltransferases
- Amino-Acid N-Acetyltransferase
- NAGS protein, human
- Carbamoyl-Phosphate Synthase (Ammonia)
- Argininosuccinate Synthase
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Topics |
- Acetyltransferases
(deficiency)
- Amino-Acid N-Acetyltransferase
- Argininosuccinate Synthase
(deficiency)
- Argininosuccinic Aciduria
- Carbamoyl-Phosphate Synthase (Ammonia)
(deficiency)
- Chorionic Villi Sampling
- Female
- Genetic Testing
- Humans
- Hyperargininemia
- Metabolism, Inborn Errors
(diagnosis, genetics)
- Ornithine Carbamoyltransferase Deficiency Disease
- Pregnancy
- Prenatal Diagnosis
- Urea
(metabolism)
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