| Literature DB >> 22859334 |
Noelia Deltetto1, Clarisa Maxit, Delfina Marchione, Marina Szlago, Andrea Schenone, Cristina H Besada, María Vaccarezza, Guillermo Agosta.
Abstract
LCHAD deficiency is a disorder of fatty acid beta oxidation. The most common clinical presentation includes disorders of consciousness, hypoglycemia and liver dysfunction triggered by prolonged fasting or infection. Once a metabolic crisis is triggered, there is a high mortality. HELLP syndrome and acute fatty liver failure of pregnancy (AFLP) are disorders of the third trimester of pregnancy. These diseases have been associated during pregnancy with hereditary defects of beta-oxidation in the fetus. We report a case of beta-oxidation disorder (LCHAD deficiency) associated with maternal HELLP. We described a peak of lipid and lactic on magnetic resonance spectroscopic of this patient. The investigation of these beta-oxidation disorders at birth, with a history of maternal HELLP, allows the diagnosis of the disease prior to developing symptoms.Entities:
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Year: 2012 PMID: 22859334 DOI: 10.5546/aap.2012.e63
Source DB: PubMed Journal: Arch Argent Pediatr ISSN: 0325-0075 Impact factor: 0.635