A case of short, medium and very-long-chain fatty acid oxidation disorder in a term infant

Autor:	Jennifer Britto John, Vijayalakshmi Kandasamy, Preethi Shankar, Vinoth Gnana Chellaiyan Devanbu
Rok vydání:	2022
Zdroj:	International Journal of Contemporary Pediatrics. 9:627
ISSN:	2349-3291 2349-3283
Popis:	A case of a 2nd born baby to healthy parents with second-degree consanguinity. A term female baby, with APGAR 1 minute and 5 minute-8/10 and 9/10 respectively, developed neonatal jaundice on day 2. On day 4, the baby started to refuse breast milk and was lethargic with poor tone and a weak cry. The baby had hypoglycemia, hypertrophic obstructive cardiomyopathy and diagnosed to have fatty acid oxidation disorder by tandem mass spectrometry, which was later confirmed by genetic testing.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::180263e7369e7df9679d871d4cc02dc6 https://doi.org/10.18203/2349-3291.ijcp20221386 Zobrazit plný text záznamu