Literature DB >> 22859334

[Long chain 3-hydroxyacyl-coA dehydrogenase deficiency, association with HELLP and magnetic resonance spectroscopy findings].

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.

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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


  2 in total

1.  Neonatal screening in the Czech Republic: increased prevalence of selected diseases in low birthweight neonates.

Authors:  Jan David; Petr Chrastina; Hana Vinohradska; Eva Al Taji; Andrea Holubova; Eva Hlidkova; Viktor Kozich; Felix Votava
Journal:  Eur J Pediatr       Date:  2018-08-22       Impact factor: 3.183

2.  Cerebral Lipid Accumulation Detected by MRS in a Child with Carnitine Palmitoyltransferase 2 Deficiency: A Case Report and Review of the Literature on Genetic Etiologies of Lipid Peaks on MRS.

Authors:  Carlos R Ferreira; Molly H Silber; Taeun Chang; Jonathan G Murnick; Brian Kirmse
Journal:  JIMD Rep       Date:  2015-11-05
  2 in total

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