Lethal ornithine transcarbamylase deficiency in a female neonate
โ Scribed by N. Girgis; V. McGravey; B. L. Shah; J. Herrin; V. E. Shih
- Publisher
- Springer
- Year
- 1987
- Tongue
- English
- Weight
- 169 KB
- Volume
- 10
- Category
- Article
- ISSN
- 0141-8955
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๐ SIMILAR VOLUMES
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
Females heterozygous for the X-linked urea cycle disorder, ornithine transcarbamylase (OTC) deficiency have a significant risk of developing hyperammonaemia. Diagnosis of this genetic defect in a proband is the essential starting point for family studies. By an immunohistochemical analysis of the li