Beta-Ketothiolase Deficiency: Resolving Challenges in Diagnosis
J. inborn errors metab. screen
;
4: e150011, 2016. graf
Artículo
en Inglés
|
LILACS-Express
| LILACS
| ID: biblio-1090911
ABSTRACT
Abstract Beta-ketothiolase deficiency is an inherited disorder of ketone body metabolism and isoleucine catabolism. It typically manifests as recurrent ketoacidotic episodes with characteristic abnormalities in the urinary organic acid profile. However, several challenges in the diagnosis of beta-ketothiolase deficiency have been encountered atypical presentations have been reported and some other disorders, such as succinyl-CoA3-oxoacid CoA transferase and 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiencies, can mimic the clinical and/or biochemical signs of beta-ketothiolase deficiency. A final diagnosis of beta-ketothiolase deficiency requires an enzymatic assay and/or a molecular analysis, but some caveats must be considered. Despite the reported missed cases, screening programs have successfully identified an increasing number of patients with beta-ketothiolase deficiency. Early diagnosis and management of beta-ketothiolase deficiency will enable prevention of its serious acute and chronic complications and ultimately improve the prognosis.
Texto completo:
Disponible
Índice:
LILACS (Américas)
Tipo de estudio:
Estudio diagnóstico
/
Estudio pronóstico
/
Estudio de tamizaje
Idioma:
Inglés
Revista:
J. inborn errors metab. screen
Asunto de la revista:
Medicina Cl¡nica
/
Patologia
Año:
2016
Tipo del documento:
Artículo
/
Documento de proyecto
País de afiliación:
Egipto
/
Japón
Institución/País de afiliación:
Chubu University/JP
/
Gifu University/JP
/
Sohag University/EG
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