A Case of Hyperargininaemia Presenting at Unusually Low Age
| Autor: | Kuldeep Singh, Lal, Daisy Khera, Gaurav Gupta, Praveen Sharma |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
medicine.medical_specialty
Arginine Urea cycle disorder Clinical Biochemistry Severe Acute Malnutrition lcsh:Medicine glutamate hyperammonaemia Gastroenterology Internal medicine Medicine Biochemistry Section ARG1 urea cycle disorder orotate business.industry arginase lcsh:R General Medicine medicine.disease normal lactate Glutamine Arginase Urea cycle Failure to thrive medicine.symptom business |
| Zdroj: | Journal of Clinical and Diagnostic Research, Vol 11, Iss 7, Pp BD01-BD03 (2017) |
| Popis: | Arginase or ARG1 gene deficiency is a Type V Urea Cycle Disorder (UCD) (catalysing the fifth reaction of urea cycle), associated with hyperammonaemia. Here, we discuss a rare case of a 13-month-old female, having Severe Acute Malnutrition (SAM) and failure to thrive, with serial high plasma ammonia, normal plasma lactate with high arginine and glutamine levels on Amino Acid Assay (AAA) which was performed on 1220 Agilent HPLC. She was admitted for about a month and eventually succumbed to her ailment after a month of discharge. |
| Databáze: | OpenAIRE |
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