RESUMO
No abstract available.
Assuntos
Adulto , Humanos , Masculino , 5-Aminolevulinato Sintetase/química , Anemia Sideroblástica/genética , Povo Asiático/genética , Sequência de Bases , Doenças Genéticas Ligadas ao Cromossomo X/genética , Hemizigoto , Mutação de Sentido Incorreto , Polimorfismo de Nucleotídeo Único , República da CoreiaRESUMO
Ornithine transcarbamylase (OTC) deficiency is the most common inborn error of urea cycle metabolism; it is inherited in an X-linked manner. The OTC catalyzes the third step of the urea cycle, the conversion of ornithine and carbamyl phosphate to citrulline. Deficiency of OTC leads to the accumulation of ammonia, causing neurological deficits. In most affected hemizygote males, OTC deficiency manifests as hyperammonemic coma that often leads to death in the newborn period, and those who recover from the coma may be neurologically impaired due to the sequelae of the hyperammonemic encephalopathy. In some, late-onset manifestations develop. We report a male neonate with early onset OT deficiency that had apnea and was comatous. On mutation analysis using DNA sequencing after polymerase chain reaction (PCR) amplification of the 10 exons, deletions of 10 bases in codon 285, causing a frame shift was detected in exon 8. The mother and a sister were diagnosed as female carriers. Therefore, genetic counseling and the risk assessment could be provided to the family.
Assuntos
Feminino , Humanos , Recém-Nascido , Masculino , Amônia , Apneia , Carbamoil-Fosfato , Citrulina , Códon , Coma , Diagnóstico , Éxons , Aconselhamento Genético , Hemizigoto , Metabolismo , Mães , Doença da Deficiência de Ornitina Carbomoiltransferase , Ornitina Carbamoiltransferase , Ornitina , Reação em Cadeia da Polimerase , Medição de Risco , Análise de Sequência de DNA , Irmãos , UreiaRESUMO
Ornithine transcarbamylase deficiency(OTCD), the most common inborn error of the urea cycle, is inherited in X-linked manner. In affected hemizygote males, OTCD manifests hyperammonemic coma that often leads to death during the newborn period. Our patient was at high risk for inborn error of urea cycle metabolism, since his two elder brothers died a few days after birth due to hyperammonemia. He was diagnosed as OTCD based on biochemical profiles and direct sequencing of the OTC gene. He has been managed with Ross metabolic protocol including protein restriction, administration of sodium benzoate, phenylacetate, arginine, citrulline, and diet therapy (Cyclinex-I ) since birth. At the 8 months of age, we performed living-related liver transplantation(LRLT) using his father's left lateral segment. The patient's serum ammonia level was restored to normal after LRLT without protein restriction. During postoperative follow up for 10 months, he was still in normal neurological and developmental status.