Proceedings: Case of hyperammonaemia due to ornithine transcarbamylase deficiency.
نویسندگان
چکیده
منابع مشابه
Fatal hyperammonaemia due to late-onset ornithine transcarbamylase deficiency.
In this case report we describe a 67-year-old male, admitted to the ICU with pneumonia who unexpectedly developed a fatal coma due to hyperammonaemia. At postmortem the diagnosis late-onset ornithine transcarbamylase deficiency was made. The non-specific clinical presentation, the rapid deterioration and incidentally the fatal outcome all underline the importance of recognition and knowledge of...
متن کاملHyperammonaemia. A variant type of deficiency of liver ornithine transcarbamylase.
The specific syndrome arising from an absent or low hepatic ornithine transcarbamylase activity has been termed hyperammonaemia (Russell et al., 1962; Levin and Russell, 1967; Levin, 1968). In the previous communication (Levin et al., 1969) 2 cases occurring in mother and child are described. In this article, we record an infant who during the course of an investigation for the cause of his vom...
متن کاملHyperammonemic Coma in an Adult due to Ornithine Transcarbamylase Deficiency
Objective. To report an unusual cause of coma in an adult. Design. Case report. Setting. University teaching hospital. Patient. A previously healthy 53-year-old man initially presented with altered mental status and progressed to coma. He was found to be substantially hyperammonemic and did not improve with lactulose therapy and continuous venovenous hemodialysis. Results. Biochemical testing r...
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 کاملAntepartum Ornithine Transcarbamylase Deficiency
Ornithine transcarbamylase deficiency (OTCD) is the most common type urea cycle enzyme deficiencies. This syndrome results from a deficiency of the mitochondrial enzyme ornithine transcarbamylase, which catalyzes the conversion of ornithine and carbamoyl phosphate to citrullin. Our case was a 28-year-old female diagnosed with OTCD following neurocognitive deficit during her first pregnancy. Alt...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1974
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.49.9.747-a