Late onset ornithine transcarbamylase deficiency: a case report.
Ornithine transcarbamylase deficiency, an X-linked disorder, is the most common inherited urea cycle defect. Previous reports have documented the existence of several different mutations that can, partly at least, explain the phenotypic variability of the disorder. We describe the only male with T343K mutation, which also is present in his mother. We underline the disorientation of the beginning of clinical presentation; the patient became ill when fruits were added to his diet.
Fessatou
Smaragdi
S
Second Department of Pediatrics, P&A Kyriakou Children's Hospital, Athens, Greece. vasilios.apostolou@siemens.gr
Garoufi
Anastasia
A
Tsapra
Helen
H
Maropoulos
George
G
Michelakakis
Helen
H
Schulpis
Kleopatra
K
D017668:Age of Onset; D002222:Carbamoyl-Phosphate Synthase (Ammonia) / Q000097:blood; D041321:Chromosomes, Human, X / Q000235:genetics; D005192:Family Health; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009954:Ornithine Carbamoyltransferase / Q000097:blood / Q000235:genetics*; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational
D009954:Ornithine Carbamoyltransferase; D002222:Carbamoyl-Phosphate Synthase (Ammonia)