title: Hyperammonemic encephalopathy in a child with ornithine transcarbamylase deficiency due to a novel combined heterozygous mutations.
abstract: Ornithine transcarbamylase deficiency (OTCD) is an X-linked disorder of metabolism of the urea cycle. It usually causes hyperammonemic encephalopathy in males during the neonatal to-infantile period, whereas female carriers present with variable manifestations depending on their pattern of random chromosome X inactivation in the liver. Early clinical manifestations of hyperammonemiaare nonspecific often leading to a delay in the diagnosis of OTCD.Unfortunately, delays in initiating treatment often lead to poor neurologic outcomes and overall survival. Presentation of hyperammonemic encephalopathy in children with OTCD is rare, and the mortality and morbidity rates are high. The diagnosis of OTCD and aggressive management of hyperammonemia were of paramount importance for appropriate treatment and successful recovery. Here, we report theclinical, biochemical, and molecular findings in a child with OTCD who presented with acute hyperammonemic encephalopathy.
authors.affiliation: Department of Neurology, Children's Hospital, School of Medicine, Zhejiang University, Hangzhou 310003, China.
authors.forename: Jiandi
authors.initials: J
authors.lastname: Gao
authors.affiliation: Department of Neurology, Children's Hospital, School of Medicine, Zhejiang University, Hangzhou 310003, China.
authors.forename: Feng
authors.initials: F
authors.lastname: Gao
authors.affiliation: Department of Neurology, Children's Hospital, School of Medicine, Zhejiang University, Hangzhou 310003, China.
authors.forename: Fang
authors.initials: F
authors.lastname: Hong
authors.affiliation: Department of Neurology, Children's Hospital, School of Medicine, Zhejiang University, Hangzhou 310003, China.
authors.forename: Huimin
authors.initials: H
authors.lastname: Yu
authors.affiliation: Department of Neurology, Children's Hospital, School of Medicine, Zhejiang University, Hangzhou 310003, China. Electronic address: jiangpeifang6688@163.com.
authors.forename: Peifang
authors.initials: P
authors.lastname: Jiang
mesh_terms: D001928:Brain Diseases, Metabolic / Q000209:etiology*; D002675:Child, Preschool; D005260:Female; D006579:Heterozygote; D006801:Humans; D022124:Hyperammonemia / Q000209:etiology* / Q000235:genetics; D009154:Mutation; D009954:Ornithine Carbamoyltransferase / Q000235:genetics; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000150:complications* / Q000235:genetics
chemical_list: D009954:Ornithine Carbamoyltransferase