Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0017160 (gastroenteritis)
 11,398 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome is a disorder of the urea cycle and ornithine degradation pathway caused by mutations in the mitochondrial ornithine transporter, ORNT1 (SLC25A15). In general, the majority of patients with HHH syndrome come to medical attention during infancy or early school years with symptoms such as learning disabilities, changes in cognitive development, spasticity, or liver dysfunction. In this report, we describe a 35-year-old male of Indian descent who was diagnosed with HHH syndrome after he presented to the emergency room with gastroenteritis, disorientation, and slurred speech. Molecular analysis revealed that this patient was heterozygous for two ORNT1 mutations, p.[Gly220Arg(+)Arg275X] (c.[658G>A(+)823C>T]) that had been previously reported in homozygous probands who presented during the first year of life. Cellular studies revealed that the ORNT1 p.Gly220Arg mutation was nonfunctional but targeted to the mitochondria. Given that this patient was a successful college graduate on a vegetarian diet without a prior history of learning or neurological impairment, additional factors such as gene redundancy, environmental, and epigenetic factors may have contributed to the delay in onset of presentation and lack of any previous symptoms. To the best of our knowledge, this is the first reported case of an adult-onset HHH syndrome presentation without a prior history of neurological or cognitive deficiency.
 ...
PMID:Adult-onset presentation of a hyperornithinemia-hyperammonemia-homocitrullinuria patient without prior history of neurological complications. 2343 Aug 80

A wide spectrum of neurological manifestations may be induced in patients with impaired renal function when receiving beta-lactam antibiotics due to the altered pharmacokinetics. Beta-lactam antibiotics is commonly chosen for treatment in patients with end-stage renal disease due to its good penetration into the cerebrospinal fluid and long half-life. Here, we present a case of a 73-year-old Malay lady with end-stage renal disease who was admitted for treatment of gastroenteritis. She presented with acute onset of diarrhoea and vomiting for two days. She was febrile during admission and was prescribed intravenous ceftriaxone 2 grams daily for coverage of bacterial gastroenteritis. Among the investigations done, white cell count were raised together with the C-reactive protein. Stool and blood cultures were also sent for further investigations. Over a three-day period, her general condition improved and she was discharged home. The onset of clinical manifestation of choreoathetosis was noticed by her caregiver on the same day of discharge. She was brought back to the emergency department and was readmitted for further workup of the new presenting complain of abnormal movement and disorientation. Haemodialysis was arranged and immediately commenced during her admission. The renal nurses reported that her neurological symptoms were noticeably improved after completion of the initial dialysis without any treatment. Ceftriaxone including other beta lactam antibiotics penetrates the blood-brain barrier and induces glutamate in excess in the striatum and cerebral cortex, resulting in neurological hyper excitability disorders despite appropriate renal adjusted dosage for end-stage renal disease patients on haemodialysis.
 ...
PMID:Reversible Choreoathetosis in a Patient with End-stage Renal Disease from Administration of Ceftriaxone. 3172 23