Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype

Italian Journal of Pediatrics

Volumn 38, Issue 1, 2012, Pages

  Lovera, Cristina ^a   Porta, Francesco ^a   Caciotti, Anna ^b   Catarzi, Serena ^c   Cassanello, Michela ^d   Caruso, Ubaldo ^d   Gallina, Maria Rita ^e   Morrone, Amelia ^b,c   Spada, Marco ^a  

^a UNIVERSITY OF TURIN   (Italy)

^b UNIVERSITY OF FLORENCE   (Italy)

^c UNIVERSITY OF FLORENCE   (Italy)

^d G GASLINI INSTITUTE   (Italy)

^e MAGGIORE DELLA CARITÀ HOSPITAL   (Italy)

Author keywords

Fatty acid oxidation disorders; Medium chain acyl CoA dehydrogenase deficiency; Sudden infant death syndrome; Sudden unexpected deaths in Infancy

Indexed keywords

ACADM GENE; ARTICLE; CARDIOPULMONARY INSUFFICIENCY; CASE REPORT; DRIED BLOOD SPOT TESTING; GENE; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HUMAN; LABORATORY TEST; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; MULTIPLE ORGAN FAILURE; NEWBORN; RESUSCITATION; SUDDEN INFANT DEATH SYNDROME; URINALYSIS;

ACYL-COA DEHYDROGENASE; CONSANGUINITY; FATAL OUTCOME; GENOTYPE; HUMANS; INFANT, NEWBORN; LIPID METABOLISM, INBORN ERRORS; SUDDEN INFANT DEATH;

EID: 84867673933     PISSN: 17208424     EISSN: 18247288     Source Type: Journal    
DOI: 10.1186/1824-7288-38-59     Document Type: Article

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