Severe ornithine transcarbamylase deficiency. Two and a half years' survival with normal development.
نویسندگان
چکیده
The clinical course and management of a boy with severe ornithine transcarbamylase deficiency are described. In addition to treatment with sodium benzoate and amino acid keto analogues, mannitol may be useful in hyperammonaemia and nocturnal gavage feeding aids maintenance treatment.
منابع مشابه
Hyperammonemic coma due to parenteral nutrition in a woman with heterozygous ornithine transcarbamylase deficiency.
Ornithine transcarbamylase deficiency is an X-linked disorder of the urea cycle that can cause hyperammonemic encephalopathy in hemizygous males and heterozygous females. Affected females typically limit protein intake in their diet. This case report describes a 36-year-old woman with ulcerative colitis who went into hyperammonemic coma after administration of total parenteral nutrition. A simi...
متن کاملFemale heterozygotes for the hypomorphic R40H mutation can have ornithine transcarbamylase deficiency and present in early adolescence: a case report and review of the literature
INTRODUCTION Ornithine transcarbamylase deficiency is the most common hereditary urea cycle defect. It is inherited in an X-linked manner and classically presents in neonates with encephalopathy and hyperammonemia in males. Females and males with hypomorphic mutations present later, sometimes in adulthood, with episodes that are frequently fatal. CASE PRESENTATION A 13-year-old Caucasian girl...
متن کاملUnder recognition of late onset ornithine transcarbamylase deficiency.
Late onset ornithine transcarbamylase deficiency (McKusick 311250) is reported in four Finnish patients, two boys and two heterozygous girls. The subtle onset and course of ornithine transcarbamylase deficiency emphasises the need for plasma ammonia and amino acid measurements in clinical situations suggesting a disorder of this nature.
متن کاملOrnithine Transcarbamylase Deficiency
Accumulation of ammonia in body tissues most commonly occurs in hepatic failure. However, it may also result from a specific deficiency of an enzyme of the urea cycle (Fig., 1). Severe hyperammonaemia has been reported with deficiencies of carbamyl phosphate synthetase (Freeman et al., 1964) and ornithine transcarbamylase (Russell et al., 1962; Levin and Russell, 1967). Some increase in blood a...
متن کاملClinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001–2013
BACKGROUND Urea cycle disorders (UCDs) are rare inherited metabolic defects of ammonia detoxification. In about half of patients presenting with a UCD, the first symptoms appear within a few days after birth. These neonatal onset patients generally have a severe defect of urea cycle function and their survival and outcome prognoses are often limited. To understand better the current situation o...
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عنوان ژورنال:
- Archives of disease in childhood
دوره 59 5 شماره
صفحات -
تاریخ انتشار 1984