Dihydrolipoamide dehydrogenase deficiency: A still overlooked cause of recurrent acute liver failure and Reye-like syndrome

Molecular Genetics and Metabolism

Volumn 109, Issue 1, 2013, Pages 28-32

  Brassier, Anaïs ^a   Ottolenghi, Chris ^a,b   Boutron, Audrey ^c   Bertrand, Anne Marie ^d   Valmary Degano, Séverine ^e   Cervoni, Jean Paul ^f   Chrétien, Dominique ^b   Arnoux, Jean Baptiste ^a   Hubert, Laurence ^a,b   Rabier, Daniel ^a,b   Lacaille, Florence ^a,g   de Keyzer, Yves ^b   Di Martino, Vincent ^f   De Lonlay, Pascale ^a,b  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b INSERM   (France)

^c BICÊTRE HOSPITAL   (France)

^d HÔPITAL SAINT JACQUES   (France)

^e UNIVERSITY HOSPITAL JEAN MINJOZ   (France)

^f UNIVERSITÉ DE FRANCHE COMTÉ   (France)

^g Fed d'Hepatologie Gastroenterol   (France)

Author keywords

Dihydrolipoamide dehydrogenase; E3 deficiency; Liver insufficiency; Reye's syndrome

Indexed keywords

AMINO ACID; ARGININE ASPARTATE; CARBOXYLIC ACID; CARNITINE; DIHYDROLIPOAMIDE DEHYDROGENASE; LACTIC ACID; PYRUVATE DEHYDROGENASE; PYRUVIC ACID; RIBOFLAVIN; THIAMINE;

ACUTE LIVER FAILURE; ADULT; ALGERIA; ARTICLE; BLOOD ANALYSIS; CHILD; CLINICAL ARTICLE; DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLD GENE; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REYE SYNDROME; SKIN FIBROBLAST; URINALYSIS;

ACIDOSIS, LACTIC; ADULT; ALGERIA; CHILD; DIHYDROLIPOAMIDE DEHYDROGENASE; FEMALE; HUMANS; INFANT; LIVER; LIVER FAILURE, ACUTE; MALE; MAPLE SYRUP URINE DISEASE; MUSCLES; MUTATION; REYE SYNDROME;

EID: 84876078536     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.01.017     Document Type: Article

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