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Treatment of a Patient with Ornithine Transcarbamylase Deficiency with Essential Amino Acids and Sodium Benzoate

โœ Scribed by Hiroko Kodama; Osamu Nose; Hitoshi Tajiri; Ichiro Maki; Hyakuji Yabuuchi

Book ID
118710740
Publisher
John Wiley and Sons
Year
1983
Tongue
English
Weight
273 KB
Volume
25
Category
Article
ISSN
1328-8067

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Identification of seven novel missense m
Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiency
โœ Consuelo Climent; Vicente Rubio ๐Ÿ“‚ Article ๐Ÿ“… 2002 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 32 KB ๐Ÿ‘ 1 views

Ornithine transcarbamylase (OTC) deficiency, a X-linked disorder, is the most frequent inborn error of the urea cycle. Point mutations and small deletions/insertions in the OTC gene are responsible for the majority of the cases and have a "private"character with little recurrence. We report on eleve