Beta-Ketothiolase Deficiency: Resolving Challenges in Diagnosis
J. inborn errors metab. screen
;
4: e150011, 2016. graf
Article
in English
|
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.
Full text:
Available
Index:
LILACS (Americas)
Type of study:
Diagnostic study
/
Prognostic study
/
Screening study
Language:
English
Journal:
J. inborn errors metab. screen
Journal subject:
Medicina Cl¡nica
/
Patologia
Year:
2016
Type:
Article
/
Project document
Affiliation country:
Egypt
/
Japan
Institution/Affiliation country:
Chubu University/JP
/
Gifu University/JP
/
Sohag University/EG
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