The value of fasting in the diagnosis of medium-chain acyl-CoA dehydrogenase deficiency
| Autor: | Moacir Wajner, Laura Vargas Fleith, Marion Deon, Maria Teresa Vieira Sanseverino, Daniella de Moura Coelho, Carmen Regla Vargas, Luis Pablo Gravina, Carolina Crespo, Larissa Murussi, Angela Sitta, Patrícia Rodrigues da Silva |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
medicine.medical_specialty
fasting Urinary system Clinical Biochemistry MCADD Hypoglycemia Tandem mass spectrometry Mass spectrometry Pathology and Forensic Medicine acylcarnitines Internal medicine organic acids medicine Pathology RB1-214 business.industry Medium-Chain Acyl-CoA Dehydrogenase Deficiency medicine.disease Medical Laboratory Technology Endocrinology mitochondrial β-oxidation defects Sample collection medicine.symptom business Altered level of consciousness |
| Zdroj: | Jornal Brasileiro de Patologia e Medicina Laboratorial, Vol 56 (2020) |
| ISSN: | 1678-4774 |
| Popis: | Female patient carrier of medium-chain acyl-CoA dehydrogenase deficiency (MCADD) with recurrent clinical episodes of hypoglycemia and altered level of consciousness, presented changes in blood acylcarnitine profile by tandem mass spectrometry and in the urinary organic acid analysis by gas chromatography/mass spectrometry (GC/MS). This case demonstrates the importance of fasting prior biological sample collection (when possible) when MCADD is suspected, and emphasizes that the time/momentum of biological sample collection is crucial to diagnosis, considering the possibility that MCADD is underdiagnosed in Brazil. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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