Utility of Genetic Testing for Confirmation of Abnormal Newborn Screening in Disorders of Long-Chain Fatty Acids: A Missed Case of Carnitine Palmitoyltransferase 1A (CPT1A) Deficiency

An 18-month-old male was evaluated after presenting with disproportionately elevated liver transaminases in the setting of acute gastroenteritis. He had marked hepatomegaly on physical exam that was later confirmed with an abdominal ultrasound. Given this clinical picture, suspicion for a fatty acid...

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Detalles Bibliográficos
Autores principales: Dowsett, Leah, Lulis, Lauren, Ficicioglu, Can, Cuddapah, Sanmati
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5523953/
https://www.ncbi.nlm.nih.gov/pubmed/28748224
http://dx.doi.org/10.3390/ijns3020010

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5523953/
https://www.ncbi.nlm.nih.gov/pubmed/28748224
http://dx.doi.org/10.3390/ijns3020010

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