Mutations in the OTC gene in 50 Japanese families with OTC deficiency were reviewed in relation to the phenotype of the patients and predicted structure of the mutant enzyme. Similar to other X-linked diseases, mutant alleles in OTC deficiency are highly heterogeneous. Mutations observed in male pat
Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiency
โ Scribed by Dr. Mitsunobu Shimadzu; Hiroshi Matsumoto; Toshinobu Matsuura; Keiko Kobayashi; Satoru Komaki; Kohji Kiwaki; Ryuuji Hoshide; Fumio Endo; Takeyori Saheki; Ichiro Matsuda
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 262 KB
- Volume
- 11
- Category
- Article
- ISSN
- 1059-7794
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๐ SIMILAR VOLUMES
Ornithine transcarbamylase (OTC) deficiency is the most common inherited disorder of the urea cycle and is transmitted as an X-linked trait. Defects in the OTC gene cause a block in ureagenesis resulting in hyperammonemia, which can lead to brain damage and death. Three previous mutation updates for
The urea cycle plays key roles to prevent the accumulation of toxic nitrogenous compound and synthesize arginine de novo. Ornithine transcarbamylase (OTC) deficiency is the most common inborn error of urea cycle, which is inherited in an X-linked manner. This study was undertaken to characterize mol
A Leu148Phe substitution of the ornithine transcarbamylase (OTC) gene was identified in a 2-year-old girl with OTC deficiency (14% of control). Her two elder sisters died in childhood of hyperammonemia, and the patient also died of OTC deficiency. Enzyme activity in Cos1 cells transfected by the mut
The "private" nature of most mutations causing ornithine transcarbamylase (OTC) deficiency makes mutation identification in the patients difficult. Further, the PCR-amplification technology generally used for the genetic diagnosis of the deficiency misses large deletions in carrier females. Intragen