Neonatal multiorgan failure due to ACAD9 mutation and complex i deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules

Human Pathology

Volumn 49, Issue , 2016, Pages 27-32

  Leslie, Nancy ^a   Wang, Xinjian ^a   Peng, Yanyan ^a   Valencia, C Alexander ^a   Khuchua, Zaza ^a   Hata, Jessica ^a   Witte, David ^a   Huang, Taosheng ^a   Bove, Kevin E ^a  

^a CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

ACAD9 defect; Complex I deficiency; Lethal neonatal lactic acidosis; Metabolic disease; Mitochondrial hyperplasia; Mitochondriopathy; Multiorgan failure; Whole exome sequencing

Indexed keywords

ACAD9 PROTEIN, HUMAN; ACYL COENZYME A DEHYDROGENASE; MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); STOP CODON;

ACIDOSIS; ACIDOSIS, LACTIC; AMINO ACID METABOLISM, INBORN ERRORS; AUTOPSY; CARDIOMYOPATHY, HYPERTROPHIC; CASE REPORT; CAUSE OF DEATH; CELL CULTURE; DEFICIENCY; DIAPHRAGM; DNA MUTATIONAL ANALYSIS; ENZYMOLOGY; FATALITY; FIBROBLAST; GENETIC PREDISPOSITION; GENETIC TRANSFECTION; GENETICS; HEART MITOCHONDRION; HUMAN; HYPERPLASIA; IMMUNOHISTOCHEMISTRY; KIDNEY TUBULE; LEIGH DISEASE; LIVER MITOCHONDRION; MALE; MITOCHONDRIAL DISEASES; MULTIPLE ORGAN FAILURE; MUSCLE MITOCHONDRION; MUSCLE WEAKNESS; NEWBORN; PATHOLOGY; PHENOTYPE; STOP CODON;

ACIDOSIS; ACIDOSIS, LACTIC; ACYL-COA DEHYDROGENASE; ACYL-COA DEHYDROGENASES; AMINO ACID METABOLISM, INBORN ERRORS; AUTOPSY; CARDIOMYOPATHY, HYPERTROPHIC; CAUSE OF DEATH; CELLS, CULTURED; CODON, NONSENSE; DIAPHRAGM; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX I; FATAL OUTCOME; FIBROBLASTS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; HYPERPLASIA; IMMUNOHISTOCHEMISTRY; INFANT, NEWBORN; KIDNEY TUBULES; LEIGH DISEASE; MALE; MITOCHONDRIA, HEART; MITOCHONDRIA, LIVER; MITOCHONDRIA, MUSCLE; MITOCHONDRIAL DISEASES; MULTIPLE ORGAN FAILURE; MUSCLE WEAKNESS; PHENOTYPE; TRANSFECTION;

EID: 84958241864     PISSN: 00468177     EISSN: 15328392     Source Type: Journal    
DOI: 10.1016/j.humpath.2015.09.039     Document Type: Article

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