[Long chain 3-hydroxyacyl-coA dehydrogenase deficiency, association with HELLP and magnetic resonance spectroscopy findings]. / Deficiencia de 3-hidroxiacil coA deshidrogenasa de cadena larga, asociación con HELLP y hallazgos en la espectroscopia por resonancia magnética.
Arch Argent Pediatr
; 110(4): e63-6, 2012 Aug.
Article
em Es
| MEDLINE
| ID: mdl-22859334
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome HELLP
/
3-Hidroxiacil-CoA Desidrogenases
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Erros Inatos do Metabolismo
Tipo de estudo:
Diagnostic_studies
/
Risk_factors_studies
Limite:
Female
/
Humans
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Infant
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Male
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Pregnancy
Idioma:
Es
Revista:
Arch Argent Pediatr
Ano de publicação:
2012
Tipo de documento:
Article