Dihydrolipoamide dehydrogenase deficiency: a still overlooked cause of recurrent acute liver failure and Reye-like syndrome
A Brassier, C Ottolenghi, A Boutron, AM Bertrand… - Molecular genetics and …, 2013 - Elsevier
The causes of Reye-like syndrome are not completely understood. Dihydrolipoamide
dehydrogenase (DLD or E3) deficiency is a rare metabolic disorder causing neurological or
liver impairment. Specific changes in the levels of urinary and plasma metabolites are the
hallmark of the classical form of the disease. Here, we report a consanguineous family of
Algerian origin with DLD deficiency presenting without suggestive clinical laboratory and
anatomopathological findings. Two children died at birth from hepatic failure and three …
dehydrogenase (DLD or E3) deficiency is a rare metabolic disorder causing neurological or
liver impairment. Specific changes in the levels of urinary and plasma metabolites are the
hallmark of the classical form of the disease. Here, we report a consanguineous family of
Algerian origin with DLD deficiency presenting without suggestive clinical laboratory and
anatomopathological findings. Two children died at birth from hepatic failure and three …