Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases.
J Inherit Metab Dis
; 34(3): 835-42, 2011 Jun.
Article
en En
| MEDLINE
| ID: mdl-21347589
Short-chain 3-hydroxyacyl-CoA dehydrogenase (HADH, SCHAD) deficiency (OMIM #231530) represents a recently described disorder of mitochondrial fatty acid beta-oxidation, with less than ten cases described worldwide. The main clinical presentation of this metabolic disease is different from other inherited defects of fatty acid ß-oxidation as the hypoglycemia is associated with hyperinsulinism. We present the clinical, biochemical and molecular findings of four new Caucasian patients with HADH deficiency. These new cases contribute to a more comprehensive description of the phenotype, diagnostic biomarkers and treatment options for this poorly defined disease.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Diagnóstico Precoz
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Errores Innatos del Metabolismo
Tipo de estudio:
Diagnostic_studies
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Prognostic_studies
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Screening_studies
Límite:
Adolescent
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Adult
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Child
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Female
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Humans
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Infant
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Male
Idioma:
En
Revista:
J Inherit Metab Dis
Año:
2011
Tipo del documento:
Article
País de afiliación:
Portugal
Pais de publicación:
Estados Unidos