Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0023380 (lethargy)
 5,697 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Ornithine transcarbamylase deficiency (OTCD) is caused by an alteration of urea synthesis, linked with partial modification of the X-chromosome, whose clinical manifestations are: lethargy, nausea, vomiting and cerebral edema. While in newborn males OTCD presents with hyperammoniemia leading to cerebral palsy with profound neurological impairment and eventually death, in women who are healthy carriers, it is possible to detect the disorder only through specific tests, since heterozygote women are rarely symptomatic. We describe the case of a young woman admitted to the hospital after an episode of mental confusion with vomiting and psychomotor restlessness, which had previously occurred several times during the premenstruum and lasted a few hours. A 2 day history of stupor made admission mandatory. Tests carried out during the hospital stay showed marked hyperammoniemia and unconjugated hyperbilirubinemia, marked cerebral edema documented by a CT scan. Liver biopsy and CSF test were normal. Screening of plasma and urinary aminoacids, level of orotic acid in the urine and OTC activity in the liver, confirmed the diagnosis of OTCD. The possibility of early diagnosis and therapy of a disease which otherwise leads to death, emphasizes the importance of precise evaluation of a possible organic cause of anorexia and behaviour disorders in young women.
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PMID:Hyperammoniemic coma in an adolescent girl: an unusual case of ornithine transcarbamylase deficiency. 828 23

Nine of 74 American alligators (Alligator mississippiensis) from a captive Florida herd of 3-4-m-long, 200-350-kg, adult males greater than 30 yr of age died within a 10-day period during 1995. Nonspecific clinical signs included anorexia, lethargy, muscle weakness, paraparesis, bilateral white ocular discharge, and various degrees of periocular, facial, cervical, and limb edema. Pneumonia, pericarditis, and arthritis were found on postmortem evaluation of the spontaneously dead and euthanatized alligators. Rapidly growing mycoplasmas were identified by culture, and mycoplasma nucleotide sequences were identified by polymerase chain reaction testing of fresh lung and synovial fluid from an affected alligator. Culture of banked frozen lung from necropsy specimens and fresh lung and fresh synovial fluid from newly affected alligators confirmed the presence of a new mycoplasma species in seven of eight individuals. Oxytetracycline was administered, but related deaths continued for 6 mo until only 14 of the initial alligators remained. An enzyme-linked immunosorbent assay to detect antibody was developed, and the organism was transmitted experimentally to naive juvenile alligators, although the source of the organism, Mycoplasma sp. (ATCC 700619), has not been identified. The alligator isolate is a novel species in the mycoplasma family because its nucleotide sequence does not match those of over 75 characterized mycoplasma species. Such factors as population density, animal age, and mycoplasmal virulence likely contributed to the course of disease.
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PMID:Morbidity and mortality associated with a new mycoplasma species from captive American alligators (Alligator mississippiensis). 1123 36